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NM_001374675.1(HSF4):c.256A>G (p.Ile86Val) AND Cataract 5 multiple types

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2002
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:
RCV000007512.3

Allele description [Variation Report for NM_001374675.1(HSF4):c.256A>G (p.Ile86Val)]

NM_001374675.1(HSF4):c.256A>G (p.Ile86Val)

Gene:
HSF4:heat shock transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_001374675.1(HSF4):c.256A>G (p.Ile86Val)
Other names:
I87V
HGVS:
  • NC_000016.10:g.67165742A>G
  • NG_009294.1:g.7358A>G
  • NG_029566.1:g.241A>G
  • NM_001040667.3:c.256A>G
  • NM_001374674.1:c.256A>G
  • NM_001374675.1:c.256A>GMANE SELECT
  • NM_001538.4:c.256A>G
  • NP_001035757.1:p.Ile86Val
  • NP_001361603.1:p.Ile86Val
  • NP_001361604.1:p.Ile86Val
  • NP_001529.2:p.Ile86Val
  • NC_000016.9:g.67199645A>G
  • Q9ULV5:p.Ile86Val
Protein change:
I86V; ILE87VAL
Links:
UniProtKB: Q9ULV5#VAR_017559; OMIM: 602438.0004; dbSNP: rs121909050
NCBI 1000 Genomes Browser:
rs121909050
Molecular consequence:
  • NM_001040667.3:c.256A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374674.1:c.256A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374675.1:c.256A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001538.4:c.256A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cataract 5 multiple types (CTRCT5)
Synonyms:
Perinuclear cataract; CATARACT, MARNER TYPE; CATARACT 5, LAMELLAR; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007290; MedGen: C0266537; Orphanet: 91492; OMIM: 116800; Human Phenotype Ontology: HP:0007971

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027713OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2002) 		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

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.

Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X.

Nat Genet. 2002 Jul;31(3):276-8. Epub 2002 Jun 24.

PubMed [citation]
PMID:
12089525

Details of each submission

From OMIM, SCV000027713.2

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

Description

In a sporadic case of unilateral lamellar cataract (CTRCT5; 116800), Bu et al. (2002) found a heterozygous ile87-to-val (I87V) substitution in the highly conserved DNA-binding domain of HSF4. The 46-year-old father carried the same mutation and showed a mild cataract with cortical water clefts and lamellar separation.

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

Last Updated: Apr 23, 2022