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NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) AND Trichothiodystrophy 1, photosensitive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 2020
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:
RCV001292729.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)]

NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)

Gene:
ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
HGVS:
  • NC_000019.10:g.45352801C>T
  • NG_007067.2:g.22787G>A
  • NM_000400.4:c.1847G>AMANE SELECT
  • NP_000391.1:p.Arg616Gln
  • LRG_461t1:c.1847G>A
  • LRG_461:g.22787G>A
  • NC_000019.9:g.45856059C>T
  • NM_000400.3:c.1847G>A
Protein change:
R616Q
Links:
dbSNP: rs376556895
NCBI 1000 Genomes Browser:
rs376556895
Molecular consequence:
  • NM_000400.4:c.1847G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Trichothiodystrophy 1, photosensitive (TTD1)
Synonyms:
PIBIDS syndrome; TAY SYNDROME; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
Identifiers:
MONDO: MONDO:0011125; MedGen: C1866504; Orphanet: 33364; OMIM: 601675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481358Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 28, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481358.2

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 3, 2024