U.S. flag

An official website of the United States government

  • delete

NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 20, 2016
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:
RCV000487434.1

Allele description

NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)

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.3470C>G (p.Pro1157Arg)
HGVS:
  • NC_000008.11:g.22116337G>C
  • NG_008166.1:g.19181C>G
  • NM_005144.5:c.3470C>GMANE SELECT
  • NM_018411.4:c.3305C>G
  • NP_005135.2:p.Pro1157Arg
  • NP_005135.2:p.Pro1157Arg
  • NP_060881.2:p.Pro1102Arg
  • NC_000008.10:g.21973850G>C
  • NM_005144.4:c.3470C>G
Protein change:
P1102R; Pro1157Arg
Links:
dbSNP: rs201030061
NCBI 1000 Genomes Browser:
rs201030061
Molecular consequence:
  • NM_005144.5:c.3470C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018411.4:c.3305C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000574522Broad Institute Rare Disease Group, Broad Institute - ExAC
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 20, 2016) 		germlinereference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1049not providednot providednot providednot providedreference population

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 Broad Institute Rare Disease Group, Broad Institute - ExAC, SCV000574522.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1049not providednot providedreference population PubMed (1)

Description

ACMG Criteria: BA1, BS2. Identified affected homozygotes in 2 consanguineous families from Pakistan/India with "hair loss soon after birth with the development of papular lesions of keratin-filled cysts" (PMID: 21919222). In ExAC, allele frequency >5% in South Asian ancestry individuals, including 52 homozygotes (1 in 150 South Asians are homozygous for this variant) for a gene associated with an autosomal recessive rare, moderate severity, pediatric-onset disorder.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1049not providednot providednot provided

Last Updated: Apr 9, 2023