NM_173477.5(USH1G):c.1231G>A (p.Glu411Lys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 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:: RCV001339650.9

Allele description [Variation Report for NM_173477.5(USH1G):c.1231G>A (p.Glu411Lys)]

NM_173477.5(USH1G):c.1231G>A (p.Glu411Lys)

Gene:

USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_173477.5(USH1G):c.1231G>A (p.Glu411Lys)

HGVS:

NC_000017.11:g.74919605C>T
NG_007882.2:g.8659G>A
NG_033062.2:g.331C>T
NM_001282489.3:c.922G>A
NM_173477.5:c.1231G>AMANE SELECT
NP_001269418.1:p.Glu308Lys
NP_775748.2:p.Glu411Lys
LRG_1416t1:c.1231G>A
LRG_1416:g.8659G>A
LRG_1416p1:p.Glu411Lys
NC_000017.10:g.72915700C>T

Protein change:

E308K

Links:

dbSNP: rs1220105000

NCBI 1000 Genomes Browser:

rs1220105000

Molecular consequence:

NM_001282489.3:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173477.5:c.1231G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Profile neighbors for GEO Profiles (Select 82328709) (199)
GEO Profiles
Profile neighbors for GEO Profiles (Select 82330673) (199)
GEO Profiles
DFFA DNA fragmentation factor subunit alpha [Homo sapiens]
DFFA DNA fragmentation factor subunit alpha [Homo sapiens]
Gene ID:1676

Gene
Gene Links for GEO Profiles (Select 82320525) (1)
Gene
NCR3 natural cytotoxicity triggering receptor 3 [Homo sapiens]
NCR3 natural cytotoxicity triggering receptor 3 [Homo sapiens]
Gene ID:259197

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001533407	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 11, 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

SCV001533407

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 11, 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, SCV001533407.5

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

Description

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. 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"). ClinVar contains an entry for this variant (Variation ID: 1036613). This variant has not been reported in the literature in individuals affected with USH1G-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 411 of the USH1G protein (p.Glu411Lys).

#	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

ClinVar

Relating variation to medicine