NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs) AND Hypogonadotropic hypogonadism 5 with or without anosmia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 21, 2016
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:: RCV000258127.1

Allele description [Variation Report for NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)]

NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)

Gene:

CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

8q12.2

Genomic location:

Preferred name:

NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)

HGVS:

NC_000008.11:g.60865395CT[1]
NG_007009.1:g.191616CT[1]
NM_001316690.1:c.2311_2312del
NM_017780.4:c.8458_8459delMANE SELECT
NP_001303619.1:p.Leu771fs
NP_060250.2:p.Leu2820fs
LRG_176:g.191616CT[1]
NC_000008.10:g.61777954CT[1]
NC_000008.10:g.61777956_61777957delCT

Protein change:

L2820fs

Links:

dbSNP: rs886040962

NCBI 1000 Genomes Browser:

rs886040962

Molecular consequence:

NM_001316690.1:c.2311_2312del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017780.4:c.8458_8459del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012880; MedGen: C3552553; Orphanet: 478; OMIM: 612370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328191	Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 21, 2016)	unknown	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

SCV000328191

Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 21, 2016)

unknown

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
	unknown	yes	1	not provided	not provided	not provided	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 Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, SCV000328191.1

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

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

Last Updated: Apr 23, 2022

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