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NM_006842.3(SF3B2):c.1A>T (p.Met1Leu) AND Hemifacial microsomia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 2023
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:
RCV003313237.7

Allele description [Variation Report for NM_006842.3(SF3B2):c.1A>T (p.Met1Leu)]

NM_006842.3(SF3B2):c.1A>T (p.Met1Leu)

Gene:
SF3B2:splicing factor 3b subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_006842.3(SF3B2):c.1A>T (p.Met1Leu)
HGVS:
  • NC_000011.10:g.66052385A>T
  • NM_006842.3:c.1A>TMANE SELECT
  • NP_006833.2:p.Met1Leu
  • NC_000011.9:g.65819856A>T
  • NM_006842.2:c.1A>T
Protein change:
M1L
Links:
OMIM: 605591.0001; dbSNP: rs2135031513
NCBI 1000 Genomes Browser:
rs2135031513
Molecular consequence:
  • NM_006842.3:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_006842.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hemifacial microsomia
Identifiers:
MedGen: C3495417; Orphanet: 374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002099441OMIM
no assertion criteria provided
Pathogenic
(Jul 13, 2023) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

Singer SL, Haan E, Slee J, Goldblatt J.

Aust Dent J. 1994 Oct;39(5):287-91.

PubMed [citation]
PMID:
7811205

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics., Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, et al.

Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9.

PubMed [citation]
PMID:
34344887
PMCID:
PMC8333351

Details of each submission

From OMIM, SCV002099441.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 11 affected individuals over 3 generations of a large Australian pedigree (kindred 7) with craniofacial microsomia mapping to chromosome 11q12-q13 (CFM1; 164210), originally described by Singer et al. (1994), Timberlake et al. (2021) identified heterozygosity for a c.1A-T transversion (c.1A-T, NM_006842.2) in the SF3B2 gene, abolishing the translation start site. The mutation segregated fully with disease in the family and was not found in the gnomAD database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024