NM_000601.6(HGF):c.1008G>A (p.Glu336=) AND Autosomal recessive nonsyndromic hearing loss 39

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 28, 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:: RCV000625228.2

Allele description [Variation Report for NM_000601.6(HGF):c.1008G>A (p.Glu336=)]

NM_000601.6(HGF):c.1008G>A (p.Glu336=)

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.1008G>A (p.Glu336=)

HGVS:

NC_000007.14:g.81729637C>T
NG_016274.2:g.45500G>A
NM_000601.6:c.1008G>AMANE SELECT
NM_001010932.3:c.993G>A
NP_000592.3:p.Glu336=
NP_001010932.1:p.Glu331=
NC_000007.13:g.81358953C>T
NM_000601.4:c.1008G>A
NM_000601.5:c.1008G>A
c.1008G>A
p.Glu336Glu

Links:

dbSNP: rs148714837

NCBI 1000 Genomes Browser:

rs148714837

Molecular consequence:

NM_000601.6:c.1008G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001010932.3:c.993G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000744221	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely benign (Jun 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000744221

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely benign
(Jun 28, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744221.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

ClinVar

Relating variation to medicine