NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) AND Noonan syndrome 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000991326.1

Allele description [Variation Report for NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)]

NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)

HGVS:

NC_000013.11:g.20189377A>G
NG_008358.1:g.8599T>C
NM_004004.6:c.205T>CMANE SELECT
NP_003995.2:p.Phe69Leu
LRG_1350t1:c.205T>C
LRG_1350:g.8599T>C
LRG_1350p1:p.Phe69Leu
NC_000013.10:g.20763516A>G
NM_004004.5:c.205T>C

Protein change:

F69L

Links:

dbSNP: rs1593351503

NCBI 1000 Genomes Browser:

rs1593351503

Molecular consequence:

NM_004004.6:c.205T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Noonan syndrome 1 (NS1)
Synonyms:: Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:: MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132591	Molecular Diagnosis Center for Deafness	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Pathogenic	inherited	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132591

Molecular Diagnosis Center for Deafness

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Pathogenic

inherited

case-control

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	5	1	not provided	not provided	not provided	case-control

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Molecular Diagnosis Center for Deafness, SCV001132591.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	case-control	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		5	not provided	1	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine