U.S. flag

An official website of the United States government

NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 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:
RCV002928907.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)]

NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)
HGVS:
  • NC_000023.11:g.108440157_108440158delinsTT
  • NG_011977.2:g.5234_5235delinsTT
  • NG_012059.2:g.4317_4318delinsAA
  • NM_000495.5:c.32_33delinsTT
  • NM_033380.3:c.32_33delinsTTMANE SELECT
  • NP_000486.1:p.Gly11Val
  • NP_203699.1:p.Gly11Val
  • LRG_232t1:c.32_33delinsTT
  • LRG_232t2:c.32_33delinsTT
  • LRG_232:g.5234_5235delinsTT
  • LRG_232p1:p.Gly11Val
  • LRG_232p2:p.Gly11Val
  • LRG_233:g.4317_4318delinsAA
  • NC_000023.10:g.107683387_107683388delinsTT
Protein change:
G11V
Molecular consequence:
  • NM_000495.5:c.32_33delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.32_33delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003275019Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV003275019.1

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

Description

This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 11 of the COL4A5 protein (p.Gly11Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Sep 29, 2024