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NM_000216.4(ANOS1):c.171_181del (p.Gln57fs) AND Hypogonadotropic hypogonadism 1 with or without anosmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2021
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:
RCV001875552.4

Allele description [Variation Report for NM_000216.4(ANOS1):c.171_181del (p.Gln57fs)]

NM_000216.4(ANOS1):c.171_181del (p.Gln57fs)

Gene:
ANOS1:anosmin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.31
Genomic location:
Preferred name:
NM_000216.4(ANOS1):c.171_181del (p.Gln57fs)
HGVS:
  • NC_000023.11:g.8731859_8731869del
  • NG_007088.2:g.5321_5331del
  • NM_000216.4:c.171_181delMANE SELECT
  • NP_000207.2:p.Gln57fs
  • NC_000023.10:g.8699897_8699907del
  • NC_000023.10:g.8699900_8699910del
Protein change:
Q57fs
Links:
dbSNP: rs2146919128
NCBI 1000 Genomes Browser:
rs2146919128
Molecular consequence:
  • NM_000216.4:c.171_181del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002149636Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 30, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C.

Hum Mol Genet. 1993 Apr;2(4):373-7.

PubMed [citation]
PMID:
8504298

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr, Vallejo M.

J Clin Endocrinol Metab. 2001 Apr;86(4):1532-8.

PubMed [citation]
PMID:
11297579
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002149636.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ANOS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln57Hisfs*25) in the ANOS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANOS1 are known to be pathogenic (PMID: 8504298, 11297579).

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

Last Updated: Sep 29, 2024