VCV001185143.2 - ClinVar

NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(2)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)

Variation ID: 1185143 Accession: VCV001185143.2

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 8q24.3 8: 144359417 (GRCh38) [ NCBI UCSC ] 8: 145583077 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 2, 2022	Mar 16, 2024	Jul 1, 2021

HGVS

Nucleotide	Protein	Molecular consequence
NM_001363118.2:c.124C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001350047.1:p.Pro42Ala	missense
NM_001253815.2:c.124C>G	NP_001240744.1:p.Pro42Ala	missense
NM_001253816.2:c.124C>G	NP_001240745.1:p.Pro42Ala	missense
NM_001363120.2:c.124C>G	NP_001350049.1:p.Pro42Ala	missense
NM_001363121.2:c.124C>G	NP_001350050.1:p.Pro42Ala	missense
NM_001363122.2:c.124C>G	NP_001350051.1:p.Pro42Ala	missense
NM_024531.5:c.124C>G	NP_078807.1:p.Pro42Ala	missense
NC_000008.11:g.144359417C>G
NC_000008.10:g.145583077C>G
NG_032872.2:g.5861C>G

... more HGVS ... less HGVS

Protein change

P42A

Other names

Canonical SPDI

NC_000008.11:144359416:C:G

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

dbSNP: rs1175039425 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
SLC52A2		-	-	GRCh38 GRCh38 GRCh37	490	561

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Brown-Vialetto-van Laere syndrome 2	Uncertain significance (1)	no assertion criteria provided	Jul 1, 2021	RCV001822965.1
Auditory neuropathy spectrum disorder	Likely pathogenic (1)	no assertion criteria provided	Feb 17, 2021	RCV003984862.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Jul 01, 2021)	no assertion criteria provided Method: clinical testing	Brown-Vialetto-van Laere syndrome 2 Affected status: unknown Allele origin: paternal	WangQJ Lab, Chinese People's Liberation Army General Hospital Accession: SCV001762516.1 First in ClinVar: Feb 02, 2022 Last updated: Feb 02, 2022
Likely pathogenic (Feb 17, 2021)	no assertion criteria provided Method: clinical testing	Auditory neuropathy spectrum disorder (Autosomal recessive inheritance) Affected status: yes Allele origin: inherited	Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University Accession: SCV004801113.1 First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024	Family history: no Age: 0-9 years Sex: male Ethnicity/Population group: Asian Geographic origin: China Tissue: Blood

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1175039425 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 23, 2024

ClinVar Genomic variation as it relates to human health

NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs1175039425 ...