NM_033409.4(SLC52A3):c.32_33delinsCT (p.Val11Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV003480345.1

Allele description [Variation Report for NM_033409.4(SLC52A3):c.32_33delinsCT (p.Val11Ala)]

NM_033409.4(SLC52A3):c.32_33delinsCT (p.Val11Ala)

Gene:

SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_033409.4(SLC52A3):c.32_33delinsCT (p.Val11Ala)

Other names:

p.Val11Ala

HGVS:

NC_000020.11:g.765742_765743delinsAG
NG_027687.2:g.15243_15244delinsCT
NM_001370085.1:c.32_33delinsCT
NM_001370086.1:c.32_33delinsCT
NM_033409.4:c.32_33delinsCTMANE SELECT
NP_001357014.1:p.Val11Ala
NP_001357015.1:p.Val11Ala
NP_212134.3:p.Val11Ala
LRG_1394t1:c.32_33delinsCT
LRG_1394:g.15243_15244delinsCT
LRG_1394p1:p.Val11Ala
NC_000020.10:g.746386_746387delinsAG
NM_033409.3:c.32_33delinsCT

Protein change:

V11A

Molecular consequence:

NM_001370085.1:c.32_33delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001370086.1:c.32_33delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_033409.4:c.32_33delinsCT - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004225455	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004225455

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 10, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004225455.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 6, 2024

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