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NM_006588.4(SULT1C4):c.13G>A (p.Asp5Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 2022
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:
RCV004084019.1

Allele description [Variation Report for NM_006588.4(SULT1C4):c.13G>A (p.Asp5Asn)]

NM_006588.4(SULT1C4):c.13G>A (p.Asp5Asn)

Gene:
SULT1C4:sulfotransferase family 1C member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q12.3
Genomic location:
Preferred name:
NM_006588.4(SULT1C4):c.13G>A (p.Asp5Asn)
HGVS:
  • NC_000002.12:g.108378350G>A
  • NM_001321770.2:c.13G>A
  • NM_006588.4:c.13G>AMANE SELECT
  • NP_001308699.1:p.Asp5Asn
  • NP_006579.2:p.Asp5Asn
  • NC_000002.11:g.108994806G>A
  • NM_006588.2:c.13G>A
  • NR_135776.2:n.397G>A
  • NR_135779.2:n.397G>A
Protein change:
D5N
Molecular consequence:
  • NM_001321770.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006588.4:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135776.2:n.397G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135779.2:n.397G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003553751Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2022) 		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, SCV003553751.2

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

Description

The c.13G>A (p.D5N) alteration is located in exon 1 (coding exon 1) of the SULT1C4 gene. This alteration results from a G to A substitution at nucleotide position 13, causing the aspartic acid (D) at amino acid position 5 to be replaced by an asparagine (N). 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: Oct 26, 2024