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NM_000601.6(HGF):c.724C>T (p.Arg242Trp) AND Autosomal recessive nonsyndromic hearing loss 39

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2024
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:
RCV004558708.1

Allele description [Variation Report for NM_000601.6(HGF):c.724C>T (p.Arg242Trp)]

NM_000601.6(HGF):c.724C>T (p.Arg242Trp)

Gene:
HGF:hepatocyte growth factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.11
Genomic location:
Preferred name:
NM_000601.6(HGF):c.724C>T (p.Arg242Trp)
HGVS:
  • NC_000007.14:g.81745022G>A
  • NG_016274.2:g.30115C>T
  • NM_000601.4:c.724C>T
  • NM_000601.6:c.724C>TMANE SELECT
  • NM_001010931.3:c.724C>T
  • NM_001010932.3:c.709C>T
  • NM_001010933.3:c.709C>T
  • NP_000592.3:p.Arg242Trp
  • NP_001010931.1:p.Arg242Trp
  • NP_001010932.1:p.Arg237Trp
  • NP_001010933.1:p.Arg237Trp
  • NC_000007.13:g.81374338G>A
  • NM_000601.6:c.724C>T
Protein change:
R237W
Links:
dbSNP: rs202185530
NCBI 1000 Genomes Browser:
rs202185530
Molecular consequence:
  • NM_000601.6:c.724C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001010931.3:c.724C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001010932.3:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001010933.3:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 39
Synonyms:
Deafness, autosomal recessive 39
Identifiers:
MONDO: MONDO:0012003; MedGen: C1842342; Orphanet: 90636; OMIM: 608265

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005047140Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 10, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV005047140.1

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

Description

An HFG c.724C>T (p.Arg242Trp) variant was identified at a near heterozygous allelic fraction of 47.2%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature but has been reported in the ClinVar database as a germline variant of uncertain significance by two submitters (ClinVar ID: 1392002). It is observed on 67/1,613,834 alleles in the general population (gnomAD v.4.0.0). Computational predictors are uncertain as to the impact of this variant on HGF function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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

Last Updated: Nov 24, 2024