NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter) AND Kallmann syndrome 1

Clinical significance:Pathogenic (Last evaluated: Sep 1, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000010686.6

Allele description [Variation Report for NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter)]

NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter)

Gene:
ANOS1:anosmin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.31
Genomic location:
Preferred name:
NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter)
HGVS:
  • NC_000023.11:g.8587809C>T
  • NG_007088.1:g.149378G>A
  • NM_000216.3:c.711G>A
  • NP_000207.2:p.Trp237Ter
  • NC_000023.10:g.8555850C>T
  • NM_000216.2:c.711G>A
Protein change:
W237*; TRP237TER
Links:
OMIM: 300836.0002; dbSNP: rs137852512
NCBI 1000 Genomes Browser:
rs137852512
Molecular consequence:
  • NM_000216.3:c.711G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Kallmann syndrome 1 (HH1)
Synonyms:
ANOSMIC HYPOGONADISM; DYSPLASIA OLFACTOGENITALIS OF DE MORSIER; HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA; See all synonyms [MedGen]
Identifiers:
MedGen: C1563719; Orphanet: 478; OMIM: 308700

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030912OMIMno assertion criteria providedPathogenic
(Sep 1, 1992)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, et al.

Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4.

PubMed [citation]
PMID:
1518845
PMCID:
PMC49883

Details of each submission

From OMIM, SCV000030912.1

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

Description

Hardelin et al. (1992) sought intragenic mutations in the KAL candidate gene in 18 unrelated patients with Kallmann syndrome (HH1; 308700) patients. With the PCR, 2 exons of the gene were amplified in genomic DNA. They identified 3 different base substitutions--all leading to a stop codon--and 1 single-base deletion responsible for a frameshift. In 1 patient with a rather extensively affected family, they found a TGG-to-TGA transition at codon 237 converting tryptophan to stop (W237X). In addition to bilateral cryptorchidism and anosmia, the boy had synkinesia, minor motor epilepsy, and unilateral renal aplasia. A brother who had died at 1 day of age had only one kidney.

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

Last Updated: Jul 21, 2018