NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys) 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:: RCV000007510.3

Allele description [Variation Report for NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)]

NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)

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.355C>T (p.Arg119Cys)

Other names:

R120C

HGVS:

NC_000016.10:g.67165841C>T
NG_009294.1:g.7457C>T
NG_029566.1:g.340C>T
NM_001040667.3:c.355C>T
NM_001374674.1:c.355C>T
NM_001374675.1:c.355C>TMANE SELECT
NM_001538.4:c.355C>T
NP_001035757.1:p.Arg119Cys
NP_001361603.1:p.Arg119Cys
NP_001361604.1:p.Arg119Cys
NP_001529.2:p.Arg119Cys
NC_000016.9:g.67199744C>T
Q9ULV5:p.Arg119Cys

Protein change:

R119C; ARG120CYS

Links:

UniProtKB: Q9ULV5#VAR_017561; OMIM: 602438.0002; dbSNP: rs28937573

NCBI 1000 Genomes Browser:

rs28937573

Molecular consequence:

NM_001040667.3:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374674.1:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374675.1:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001538.4:c.355C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027711	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3233780, 12089525 Marner, E. A family with eight generations of hereditary cataract. Acta Ophthal. 27: 537-551, 1949.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027711

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2002)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Marner, E. A family with eight generations of hereditary cataract. Acta Ophthal. 27: 537-551, 1949.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin.

Eiberg H, Marner E, Rosenberg T, Mohr J.

Clin Genet. 1988 Oct;34(4):272-5.

PubMed [citation]

PMID:: 3233780

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, SCV000027711.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of a large Danish family segregating cataract, originally reported by Marner (1949) and studied by Eiberg et al. (1988) with demonstration of linkage to haptoglobin on chromosome 16q (CTRCT5; 116800), Bu et al. (2002) identified a heterozygous 362C-T transition in exon 3 of the HSF4 gene. The mutation was expected to result in substitution of a highly conserved arg120 residue by cysteine (R120C). The cataract in this Danish family occurred through 9 generations and was characterized by zonular stellate lens opacity with an anterior polar opacity and early childhood onset.

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

Last Updated: Apr 23, 2022

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