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NM_005450.6(NOG):c.386T>A (p.Leu129Ter) AND Proximal symphalangism 1A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2001
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000007090.4

Allele description [Variation Report for NM_005450.6(NOG):c.386T>A (p.Leu129Ter)]

NM_005450.6(NOG):c.386T>A (p.Leu129Ter)

Gene:
NOG:noggin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_005450.6(NOG):c.386T>A (p.Leu129Ter)
HGVS:
  • NC_000017.11:g.56594609T>A
  • NG_011958.1:g.5911T>A
  • NM_005450.6:c.386T>AMANE SELECT
  • NP_005441.1:p.Leu129Ter
  • NC_000017.10:g.54671970T>A
Protein change:
L129*; LEU129TER
Links:
OMIM: 602991.0010; dbSNP: rs104894613
NCBI 1000 Genomes Browser:
rs104894613
Molecular consequence:
  • NM_005450.6:c.386T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Proximal symphalangism 1A
Identifiers:
MONDO: MONDO:0020733; MedGen: C3714899; Orphanet: 3250; OMIM: 185800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027286OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2001) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G.

Clin Genet. 2001 Dec;60(6):447-51.

PubMed [citation]
PMID:
11846737

Details of each submission

From OMIM, SCV000027286.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mother and 2 sons with proximal symphalangism (SYM1A; 185800), Takahashi et al. (2001) found a leu129-to-ter nonsense mutation in the NOG gene. The mutation was present in heterozygous state. The 7-year-old propositus had unilateral conductive deafness.

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

Last Updated: Apr 23, 2022