NM_016006.6(ABHD5):c.911C>T (p.Ser304Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 7, 2022
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:: RCV002596046.2

Allele description [Variation Report for NM_016006.6(ABHD5):c.911C>T (p.Ser304Phe)]

NM_016006.6(ABHD5):c.911C>T (p.Ser304Phe)

Gene:

ABHD5:abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.33

Genomic location:

Preferred name:

NM_016006.6(ABHD5):c.911C>T (p.Ser304Phe)

HGVS:

NC_000003.12:g.43717808C>T
NG_007090.5:g.31939C>T
NM_001355186.2:c.911C>T
NM_001365649.1:c.788C>T
NM_001365650.1:c.774-635C>T
NM_016006.6:c.911C>TMANE SELECT
NP_001342115.1:p.Ser304Phe
NP_001352578.1:p.Ser263Phe
NP_057090.2:p.Ser304Phe
LRG_1174t1:c.911C>T
LRG_1174:g.31939C>T
LRG_1174p1:p.Ser304Phe
NC_000003.11:g.43759300C>T
NR_158560.1:n.922C>T

Protein change:

S263F

Molecular consequence:

NM_001365650.1:c.774-635C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001355186.2:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001365649.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016006.6:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_158560.1:n.922C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003498671	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 7, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003498671

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 7, 2022)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003498671.1

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

Description

This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 304 of the ABHD5 protein (p.Ser304Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ABHD5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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