NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del) AND Hypogonadotropic hypogonadism 1 with or without anosmia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2022
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:: RCV002283727.1

Allele description [Variation Report for NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)]

NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)

Gene:

ANOS1:anosmin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp22.31

Genomic location:

Preferred name:

NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)

HGVS:

NC_000023.11:g.8534351_8534359del
NG_007088.2:g.202832_202840del
NM_000216.4:c.1948_1956delMANE SELECT
NP_000207.2:p.Phe650_Thr652del
NC_000023.10:g.8502392_8502400del

Molecular consequence:

NM_000216.4:c.1948_1956del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002572745	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002572745

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 1, 2022)

germline

clinical testing

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	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From 3billion, SCV002572745.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Inframe deletion located in a nonrepeat region is predicted to change the length of the protein and disrupt normal protein function. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Dec 24, 2022

ClinVar

Relating variation to medicine