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NM_030958.3(SLCO5A1):c.2356C>T (p.His786Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 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:
RCV004457203.1

Allele description [Variation Report for NM_030958.3(SLCO5A1):c.2356C>T (p.His786Tyr)]

NM_030958.3(SLCO5A1):c.2356C>T (p.His786Tyr)

Gene:
SLCO5A1:solute carrier organic anion transporter family member 5A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.3
Genomic location:
Preferred name:
NM_030958.3(SLCO5A1):c.2356C>T (p.His786Tyr)
HGVS:
  • NC_000008.11:g.69673060G>A
  • NM_001146008.2:c.*227C>T
  • NM_001146009.1:c.2191C>T
  • NM_030958.3:c.2356C>TMANE SELECT
  • NP_001139481.1:p.His731Tyr
  • NP_112220.2:p.His786Tyr
  • NC_000008.10:g.70585295G>A
  • NM_030958.2:c.2356C>T
Protein change:
H731Y
Molecular consequence:
  • NM_001146008.2:c.*227C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001146009.1:c.2191C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030958.3:c.2356C>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
SCV004953236Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 21, 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, SCV004953236.1

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

Description

The c.2356C>T (p.H786Y) alteration is located in exon 10 (coding exon 9) of the SLCO5A1 gene. This alteration results from a C to T substitution at nucleotide position 2356, causing the histidine (H) at amino acid position 786 to be replaced by a tyrosine (Y). 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