NM_024306.5(FA2H):c.70dup (p.Ala24fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 17, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001008148.1

Allele description [Variation Report for NM_024306.5(FA2H):c.70dup (p.Ala24fs)]

NM_024306.5(FA2H):c.70dup (p.Ala24fs)

Genes:

LOC130059394:ATAC-STARR-seq lymphoblastoid silent region 7701 [Gene]
FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_024306.5(FA2H):c.70dup (p.Ala24fs)

HGVS:

NC_000016.10:g.74774686dup
NG_017070.1:g.5146dup
NM_024306.5:c.70dupMANE SELECT
NP_077282.3:p.Ala24fs
NC_000016.9:g.74808584dup
NM_024306.4:c.70dupG

Protein change:

A24fs

Links:

dbSNP: rs1597577795

NCBI 1000 Genomes Browser:

rs1597577795

Molecular consequence:

NM_024306.5:c.70dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167908	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (May 17, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167908

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(May 17, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001167908.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.70dupG variant in the FA2H gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.70dupG variant causes a frameshift starting with codon Alanine 24, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 78 of the new reading frame, denoted p.Ala24GlyfsX78. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.70dupG variant was not observed in approximately 1800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, the c.70dupG is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Oct 14, 2023

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