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NM_182548.4(LHFPL5):c.476G>A (p.Arg159His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 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:
RCV000150933.6

Allele description [Variation Report for NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)]

NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)

Gene:
LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)
HGVS:
  • NC_000006.12:g.35814609G>A
  • NG_012184.2:g.14316G>A
  • NM_182548.4:c.476G>AMANE SELECT
  • NP_872354.1:p.Arg159His
  • LRG_1352t1:c.476G>A
  • LRG_1352p1:p.Arg159His
  • NC_000006.11:g.35782386G>A
  • NG_012184.1:g.14316G>A
  • NM_182548.3:c.476G>A
Protein change:
R159H
Links:
dbSNP: rs139179263
NCBI 1000 Genomes Browser:
rs139179263
Molecular consequence:
  • NM_182548.4:c.476G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000198587Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Apr 19, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198587.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Arg159His var iant in LHFPL5 has been reported in 1 individual with hearing loss by our labora tory (LMM unpublished data), but has been identified in 0.17% of African chromos omes by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs139179263). This variant has also been reported in ClinVar (Variation ID 163857). Computational prediction tools and conservation analyses suggest th at this variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. In summary, while the clinical significance of the p.Arg159His variant is uncertain, population data suggest that it is mor e likely to be benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 20, 2024