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NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) AND Hypogonadotropic hypogonadism 5 with or without anosmia

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001160695.12

Allele description [Variation Report for NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)]

NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)

Gene:
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
HGVS:
  • NC_000008.11:g.60742829C>T
  • NG_007009.1:g.69050C>T
  • NM_001316690.1:c.1397C>T
  • NM_017780.4:c.1397C>TMANE SELECT
  • NP_001303619.1:p.Ser466Leu
  • NP_060250.2:p.Ser466Leu
  • LRG_176t1:c.1397C>T
  • LRG_176:g.69050C>T
  • NC_000008.10:g.61655388C>T
  • NM_017780.2:c.1397C>T
  • NM_017780.3:c.1397C>T
  • Q9P2D1:p.Ser466Leu
Protein change:
S466L
Links:
UniProtKB: Q9P2D1#VAR_068110; dbSNP: rs71640285
NCBI 1000 Genomes Browser:
rs71640285
Molecular consequence:
  • NM_001316690.1:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017780.4:c.1397C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypogonadotropic hypogonadism 5 with or without anosmia (KAL5)
Synonyms:
Kallmann syndrome 5; HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA; HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
Identifiers:
MONDO: MONDO:0012880; MedGen: C3552553; Orphanet: 478; OMIM: 612370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001322516Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM.

Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11.

PubMed [citation]
PMID:
22539353

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001322516.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: May 19, 2024