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NM_001055.4(SULT1A1):c.43G>A (p.Val15Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004460970.1

Allele description [Variation Report for NM_001055.4(SULT1A1):c.43G>A (p.Val15Met)]

NM_001055.4(SULT1A1):c.43G>A (p.Val15Met)

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.43G>A (p.Val15Met)
HGVS:
  • NC_000016.10:g.28608813C>T
  • NG_028128.1:g.19733G>A
  • NM_001055.4:c.43G>AMANE SELECT
  • NM_001394421.1:c.43G>A
  • NM_001394422.1:c.43G>A
  • NM_001394423.1:c.43G>A
  • NM_001394424.1:c.43G>A
  • NM_001394425.1:c.43G>A
  • NM_177529.3:c.43G>A
  • NM_177530.4:c.43G>A
  • NM_177534.4:c.43G>A
  • NM_177536.5:c.70-1736G>A
  • NP_001046.2:p.Val15Met
  • NP_001381350.1:p.Val15Met
  • NP_001381351.1:p.Val15Met
  • NP_001381352.1:p.Val15Met
  • NP_001381353.1:p.Val15Met
  • NP_001381354.1:p.Val15Met
  • NP_803565.1:p.Val15Met
  • NP_803566.1:p.Val15Met
  • NP_803878.1:p.Val15Met
  • NC_000016.9:g.28620134C>T
  • NM_001055.3:c.43G>A
Protein change:
V15M
Molecular consequence:
  • NM_177536.5:c.70-1736G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001055.4:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394421.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394422.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394423.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394424.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394425.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177529.3:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177530.4:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177534.4:c.43G>A - 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
SCV004960254Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 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, SCV004960254.1

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

Description

The c.43G>A (p.V15M) alteration is located in exon 2 (coding exon 1) of the SULT1A1 gene. This alteration results from a G to A substitution at nucleotide position 43, causing the valine (V) at amino acid position 15 to be replaced by a methionine (M). 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