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NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 24, 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:
RCV001935178.4

Allele description [Variation Report for NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser)]

NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser)
HGVS:
  • NC_000010.11:g.49524705G>C
  • NG_009442.1:g.19397C>G
  • NG_033155.1:g.4577C>G
  • NM_000124.4:c.725C>GMANE SELECT
  • NM_001277058.2:c.725C>G
  • NM_001277059.2:c.725C>G
  • NM_001346440.2:c.725C>G
  • NP_000115.1:p.Thr242Ser
  • NP_001263987.1:p.Thr242Ser
  • NP_001263988.1:p.Thr242Ser
  • NP_001333369.1:p.Thr242Ser
  • LRG_465:g.19397C>G
  • NC_000010.10:g.50732751G>C
Protein change:
T242S
Links:
dbSNP: rs1837269364
NCBI 1000 Genomes Browser:
rs1837269364
Molecular consequence:
  • NM_000124.4:c.725C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277058.2:c.725C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277059.2:c.725C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346440.2:c.725C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002174922Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 24, 2021) 		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, SCV002174922.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 242 of the ERCC6 protein (p.Thr242Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine.

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

Last Updated: Sep 29, 2024