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NM_001055.4(SULT1A1):c.874C>T (p.Arg292Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2023
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:
RCV004460978.1

Allele description [Variation Report for NM_001055.4(SULT1A1):c.874C>T (p.Arg292Cys)]

NM_001055.4(SULT1A1):c.874C>T (p.Arg292Cys)

Gene:
SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_001055.4(SULT1A1):c.874C>T (p.Arg292Cys)
HGVS:
  • NC_000016.10:g.28605835G>A
  • NG_028128.1:g.22711C>T
  • NM_001055.4:c.874C>TMANE SELECT
  • NM_001394421.1:c.874C>T
  • NM_001394422.1:c.874C>T
  • NM_001394423.1:c.874C>T
  • NM_001394424.1:c.874C>T
  • NM_001394425.1:c.874C>T
  • NM_177529.3:c.874C>T
  • NM_177530.4:c.874C>T
  • NM_177534.4:c.874C>T
  • NM_177536.5:c.571C>T
  • NP_001046.2:p.Arg292Cys
  • NP_001381350.1:p.Arg292Cys
  • NP_001381351.1:p.Arg292Cys
  • NP_001381352.1:p.Arg292Cys
  • NP_001381353.1:p.Arg292Cys
  • NP_001381354.1:p.Arg292Cys
  • NP_803565.1:p.Arg292Cys
  • NP_803566.1:p.Arg292Cys
  • NP_803878.1:p.Arg292Cys
  • NP_803880.2:p.Arg191Cys
  • NC_000016.9:g.28617156G>A
  • NM_001055.3:c.874C>T
Protein change:
R191C
Molecular consequence:
  • NM_001055.4:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394421.1:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394422.1:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394423.1:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394424.1:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394425.1:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177529.3:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177530.4:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177534.4:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177536.5:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004959546Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004959546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.874C>T (p.R292C) alteration is located in exon 8 (coding exon 7) of the SULT1A1 gene. This alteration results from a C to T substitution at nucleotide position 874, causing the arginine (R) at amino acid position 292 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024