NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) AND Wiskott-Aldrich syndrome 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 10, 2023
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:: RCV001298626.5

Allele description [Variation Report for NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser)]

NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser)

Gene:

WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser)

HGVS:

NC_000002.12:g.174571826C>T
NG_032009.1:g.116074G>A
NM_001077269.1:c.979G>A
NM_001375832.1:c.979G>A
NM_001375833.1:c.979G>A
NM_001375834.1:c.979G>AMANE SELECT
NM_001375835.1:c.979G>A
NM_001375836.1:c.979G>A
NM_001375837.1:c.979G>A
NM_001375838.1:c.979G>A
NM_001375839.1:c.601G>A
NM_003387.5:c.979G>A
NP_001070737.1:p.Gly327Ser
NP_001362761.1:p.Gly327Ser
NP_001362762.1:p.Gly327Ser
NP_001362763.1:p.Gly327Ser
NP_001362764.1:p.Gly327Ser
NP_001362765.1:p.Gly327Ser
NP_001362766.1:p.Gly327Ser
NP_001362767.1:p.Gly327Ser
NP_001362768.1:p.Gly201Ser
NP_003378.3:p.Gly327Ser
LRG_374t1:c.979G>A
LRG_374:g.116074G>A
LRG_374p1:p.Gly327Ser
NC_000002.11:g.175436554C>T

Protein change:

G201S

Links:

dbSNP: rs1430804372

NCBI 1000 Genomes Browser:

rs1430804372

Molecular consequence:

NM_001077269.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375832.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375833.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375834.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375835.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375836.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375837.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375838.1:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375839.1:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003387.5:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Wiskott-Aldrich syndrome 2 (WAS2)
Synonyms:: WIPF1 DEFICIENCY
Identifiers:: MONDO: MONDO:0013779; MedGen: C3281001; Orphanet: 906; OMIM: 614493

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Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1-like, mRNA (cDNA clone IMAGE:8327655), partial cds
gi|85700318|gb|BC112187.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001487689	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 10, 2023)	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

SCV001487689

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 10, 2023)

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, SCV001487689.4

#	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 glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 327 of the WIPF1 protein (p.Gly327Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002230). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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