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NM_005144.5(HR):c.1859G>A (p.Arg620Gln) AND Atrichia with papular lesions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000294169.5

Allele description [Variation Report for NM_005144.5(HR):c.1859G>A (p.Arg620Gln)]

NM_005144.5(HR):c.1859G>A (p.Arg620Gln)

Gene:
HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_005144.5(HR):c.1859G>A (p.Arg620Gln)
HGVS:
  • NC_000008.11:g.22123705C>T
  • NG_008166.1:g.11813G>A
  • NM_005144.5:c.1859G>AMANE SELECT
  • NM_018411.4:c.1859G>A
  • NP_005135.2:p.Arg620Gln
  • NP_005135.2:p.Arg620Gln
  • NP_060881.2:p.Arg620Gln
  • NC_000008.10:g.21981218C>T
  • NM_005144.4:c.1859G>A
  • O43593:p.Arg620Gln
Protein change:
R620Q
Links:
UniProtKB: O43593#VAR_005265; dbSNP: rs117197822
NCBI 1000 Genomes Browser:
rs117197822
Molecular consequence:
  • NM_005144.5:c.1859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018411.4:c.1859G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrichia with papular lesions (APL)
Synonyms:
Papular Atrichia
Identifiers:
MONDO: MONDO:0008847; MedGen: C1859592; OMIM: 209500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000472907Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.

Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM.

Am J Hum Genet. 1998 Oct;63(4):984-91.

PubMed [citation]
PMID:
9758627
PMCID:
PMC1377501

Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia.

Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nöthen MM, Cichon S.

Am J Hum Genet. 2001 Jul;69(1):235-7. No abstract available.

PubMed [citation]
PMID:
11410842
PMCID:
PMC1226040

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000472907.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024