NM_003072.5(SMARCA4):c.3698T>G (p.Met1233Arg) AND Microcephaly

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001252916.1

Allele description [Variation Report for NM_003072.5(SMARCA4):c.3698T>G (p.Met1233Arg)]

NM_003072.5(SMARCA4):c.3698T>G (p.Met1233Arg)

Gene:

SMARCA4:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_003072.5(SMARCA4):c.3698T>G (p.Met1233Arg)

HGVS:

NC_000019.10:g.11033441T>G
NG_011556.2:g.77520T>G
NM_001128844.3:c.3698T>G
NM_001128845.2:c.3698T>G
NM_001128846.2:c.3698T>G
NM_001128847.4:c.3698T>G
NM_001128848.2:c.3698T>G
NM_001128849.3:c.3698T>G
NM_001374457.1:c.3698T>G
NM_003072.5:c.3698T>GMANE SELECT
NP_001122316.1:p.Met1233Arg
NP_001122317.1:p.Met1233Arg
NP_001122318.1:p.Met1233Arg
NP_001122319.1:p.Met1233Arg
NP_001122320.1:p.Met1233Arg
NP_001122321.1:p.Met1233Arg
NP_001361386.1:p.Met1233Arg
NP_003063.2:p.Met1233Arg
LRG_878t1:c.3698T>G
LRG_878p1:p.Met1233Arg
NC_000019.9:g.11144117T>G
NM_001128849.1:c.3698T>G
NR_164683.1:n.3988T>G

Protein change:

M1233R

Links:

dbSNP: rs2075063900

NCBI 1000 Genomes Browser:

rs2075063900

Molecular consequence:

NM_001128844.3:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128845.2:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128846.2:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128847.4:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128848.2:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128849.3:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374457.1:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003072.5:c.3698T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164683.1:n.3988T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Microcephaly
Synonyms:: Microcephaly (disease)
Identifiers:: MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001164059	Department of Pediatrics, Samsung Medical Center, Samsung Medical Center	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001164059

Department of Pediatrics, Samsung Medical Center, Samsung Medical Center

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance

de novo

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Pediatrics, Samsung Medical Center, Samsung Medical Center, SCV001164059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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