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NM_017780.4(CHD7):c.164A>G (p.His55Arg) AND Hypogonadotropic hypogonadism 5 with or without anosmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2008
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:
RCV000002116.3

Allele description [Variation Report for NM_017780.4(CHD7):c.164A>G (p.His55Arg)]

NM_017780.4(CHD7):c.164A>G (p.His55Arg)

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.164A>G (p.His55Arg)
HGVS:
  • NC_000008.11:g.60741596A>G
  • NG_007009.1:g.67817A>G
  • NM_001316690.1:c.164A>G
  • NM_017780.4:c.164A>GMANE SELECT
  • NP_001303619.1:p.His55Arg
  • NP_060250.2:p.His55Arg
  • LRG_176:g.67817A>G
  • NC_000008.10:g.61654155A>G
  • Q9P2D1:p.His55Arg
Protein change:
H55R; HIS55ARG
Links:
UniProtKB: Q9P2D1#VAR_054623; OMIM: 608892.0015; dbSNP: rs121434345
NCBI 1000 Genomes Browser:
rs121434345
Molecular consequence:
  • NM_001316690.1:c.164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017780.4:c.164A>G - 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
SCV000022274OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.

Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.

PubMed [citation]
PMID:
18834967
PMCID:
PMC2561938

Details of each submission

From OMIM, SCV000022274.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male patient with Kallmann syndrome (HH5; 612370) and no other anomalies, Kim et al. (2008) identified a 164A-G transition in exon 2 of the CDH7 gene, resulting in a his55-to-arg (H55R) substitution at a highly conserved residue. There were no other affected family members or relatives. The mutation was not found in 180 controls.

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

Last Updated: Feb 20, 2024