NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe) AND Wiskott-Aldrich syndrome 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 2021
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:: RCV002895675.3

Allele description [Variation Report for NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)]

NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)

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.1000C>T (p.Leu334Phe)

HGVS:

NC_000002.12:g.174571805G>A
NG_032009.1:g.116095C>T
NM_001077269.1:c.1000C>T
NM_001375832.1:c.1000C>T
NM_001375833.1:c.1000C>T
NM_001375834.1:c.1000C>TMANE SELECT
NM_001375835.1:c.1000C>T
NM_001375836.1:c.1000C>T
NM_001375837.1:c.1000C>T
NM_001375838.1:c.1000C>T
NM_001375839.1:c.622C>T
NM_003387.5:c.1000C>T
NP_001070737.1:p.Leu334Phe
NP_001362761.1:p.Leu334Phe
NP_001362762.1:p.Leu334Phe
NP_001362763.1:p.Leu334Phe
NP_001362764.1:p.Leu334Phe
NP_001362765.1:p.Leu334Phe
NP_001362766.1:p.Leu334Phe
NP_001362767.1:p.Leu334Phe
NP_001362768.1:p.Leu208Phe
NP_003378.3:p.Leu334Phe
LRG_374t1:c.1000C>T
LRG_374:g.116095C>T
LRG_374p1:p.Leu334Phe
NC_000002.11:g.175436533G>A

Protein change:

L208F

Molecular consequence:

NM_001077269.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375832.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375833.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375834.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375835.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375836.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375837.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375838.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375839.1:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003387.5:c.1000C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003249262	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 14, 2021)	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

SCV003249262

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 14, 2021)

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, SCV003249262.2

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

Description

This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WIPF1-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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 334 of the WIPF1 protein (p.Leu334Phe).

#	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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