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NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 2019
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:
RCV001195266.4

Allele description [Variation Report for NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly)]

NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly)

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.1217C>G (p.Ala406Gly)
HGVS:
  • NC_000017.11:g.74919619G>C
  • NG_007882.2:g.8645C>G
  • NG_033062.1:g.345G>C
  • NG_033062.2:g.345G>C
  • NM_001282489.3:c.908C>G
  • NM_173477.5:c.1217C>GMANE SELECT
  • NP_001269418.1:p.Ala303Gly
  • NP_775748.2:p.Ala406Gly
  • LRG_1416t1:c.1217C>G
  • LRG_1416:g.8645C>G
  • LRG_1416p1:p.Ala406Gly
  • NC_000017.10:g.72915714G>C
Protein change:
A303G
Links:
dbSNP: rs1282068985
NCBI 1000 Genomes Browser:
rs1282068985
Molecular consequence:
  • NM_001282489.3:c.908C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173477.5:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001365574Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 27, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV001365574.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Ala406Gly variant in USH1G has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.006% (2/34514) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022