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NM_000216.4(ANOS1):c.1A>G (p.Met1Val) AND Hypogonadotropic hypogonadism 1 with or without anosmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2013
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:
RCV000128830.1

Allele description [Variation Report for NM_000216.4(ANOS1):c.1A>G (p.Met1Val)]

NM_000216.4(ANOS1):c.1A>G (p.Met1Val)

Gene:
ANOS1:anosmin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.31
Genomic location:
Preferred name:
NM_000216.4(ANOS1):c.1A>G (p.Met1Val)
HGVS:
  • NC_000023.11:g.8732036T>C
  • NG_007088.2:g.5151A>G
  • NM_000216.3:c.1A>G
  • NM_000216.4:c.1A>GMANE SELECT
  • NP_000207.2:p.Met1Val
  • NC_000023.10:g.8700077T>C
  • NG_007088.1:g.5151A>G
Protein change:
M1V
Links:
dbSNP: rs606231409
NCBI 1000 Genomes Browser:
rs606231409
Molecular consequence:
  • NM_000216.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000216.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
initiation codon change [Variation Ontology: 0317]

Condition(s)

Name:
Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
Synonyms:
Kallmann syndrome 1; Kallmann syndrome, X-linked; Kallmann syndrome, type 1, X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010635; MedGen: C1563719; Orphanet: 478; OMIM: 308700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172080Endocrinology Clinic, Seth G.S. Medical College
no assertion criteria provided
Pathogenic
(May 1, 2013) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiangermlineyes2not providednot provided100Total number of individual tested includes 10 familial and other sporadic casesresearch

Citations

PubMed

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr.

J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.

PubMed [citation]
PMID:
23533228
PMCID:
PMC3644607

Details of each submission

From Endocrinology Clinic, Seth G.S. Medical College, SCV000172080.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian2not providedTotal number of individual tested includes 10 familial and other sporadic casesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes100Bloodnot provided2not provided1not provided

Last Updated: May 19, 2024