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NM_005144.5(HR):c.3287_3291dup (p.Leu1098fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 2023
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:
RCV003571333.2

Allele description [Variation Report for NM_005144.5(HR):c.3287_3291dup (p.Leu1098fs)]

NM_005144.5(HR):c.3287_3291dup (p.Leu1098fs)

Gene:
HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_005144.5(HR):c.3287_3291dup (p.Leu1098fs)
HGVS:
  • NC_000008.11:g.22116964_22116968dup
  • NG_008166.1:g.18552_18556dup
  • NM_005144.5:c.3287_3291dupMANE SELECT
  • NM_018411.4:c.3214-538_3214-534dup
  • NP_005135.2:p.Leu1098fs
  • NC_000008.10:g.21974474_21974475insGCGCC
  • NC_000008.10:g.21974477_21974481dup
Protein change:
L1098fs
Molecular consequence:
  • NM_005144.5:c.3287_3291dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018411.4:c.3214-538_3214-534dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004317259Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 27, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.

Kim H, Wajid M, Kraemer L, Shimomura Y, Christiano AM.

J Dermatol Sci. 2007 Dec;48(3):207-11. Epub 2007 Sep 14.

PubMed [citation]
PMID:
17869066
PMCID:
PMC3341169

Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Kraemer L, Wajid M, Shimomura Y, Christiano AM.

J Dermatol Sci. 2008 Apr;50(1):25-30. doi: 10.1016/j.jdermsci.2007.10.012.

PubMed [citation]
PMID:
18164595
PMCID:
PMC2914536
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004317259.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with HR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1098Glyfs*9) in the HR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HR are known to be pathogenic (PMID: 17869066, 18164595).

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

Last Updated: Sep 29, 2024