NM_003578.4(SOAT2):c.1408G>A (p.Gly470Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 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:
RCV004220476.1

Allele description [Variation Report for NM_003578.4(SOAT2):c.1408G>A (p.Gly470Ser)]

NM_003578.4(SOAT2):c.1408G>A (p.Gly470Ser)

Gene:
SOAT2:sterol O-acyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_003578.4(SOAT2):c.1408G>A (p.Gly470Ser)
HGVS:
  • NC_000012.12:g.53123763G>A
  • NM_003578.4:c.1408G>AMANE SELECT
  • NP_003569.1:p.Gly470Ser
  • NC_000012.11:g.53517547G>A
  • NM_003578.3:c.1408G>A
Protein change:
G470S
Molecular consequence:
  • NM_003578.4:c.1408G>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
SCV003728475Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 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, SCV003728475.2

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

Description

The c.1408G>A (p.G470S) alteration is located in exon 14 (coding exon 14) of the SOAT2 gene. This alteration results from a G to A substitution at nucleotide position 1408, causing the glycine (G) at amino acid position 470 to be replaced by a serine (S). 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: Nov 10, 2024