VCV000242435.1 - ClinVar

NM_007347.5(AP4E1):c.1549G>A (p.Val517Ile)

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.

(0)

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.

no classification for the single variant

Somatic

Clinical impact

The aggregate somatic clinical impact for this variant for one or more tumor types, using the AMP/ASCO/CAP terminology. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(0)

Stars represent the aggregate review status, or the level of review supporting the aggregate somatic clinical impact 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.

no classification for the single variant

Somatic

Oncogenicity

The aggregate oncogenicity classification for this variant for one or more tumor types, using the ClinGen/CGC/VICC terminology. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(0)

Stars represent the aggregate review status, or the level of review supporting the aggregate oncogenicity 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.

no classification for the single variant

Variant Details

This variant is part of a Haplotype

NM_007347.4(AP4E1):c.[1549G>A;2401G>A]

Identifiers

NM_007347.5(AP4E1):c.1549G>A (p.Val517Ile)

Variation ID: 242435 Accession: VCV000242435.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 15q21.2 15: 50958492 (GRCh38) [ NCBI UCSC ] 15: 51250689 (GRCh37) [ NCBI UCSC ]

HGVS

Nucleotide	Protein	Molecular consequence
NM_007347.5:c.1549G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_031373.2:p.Val517Ile	missense
NM_001252127.2:c.1324G>A	NP_001239056.1:p.Val442Ile	missense
NC_000015.10:g.50958492G>A
NC_000015.9:g.51250689G>A
NG_031875.2:g.54821G>A
LRG_732:g.54821G>A
LRG_732t1:c.1549G>A	LRG_732p1:p.Val517Ile
	Q9UPM8:p.Val517Ile

... more HGVS ... less HGVS

Protein change

V517I, V442I

Other names

Canonical SPDI

NC_000015.10:50958491:G:A

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.

Trans-Omics for Precision Medicine (TOPMed) 0.00000

The Genome Aggregation Database (gnomAD) 0.00001

The Genome Aggregation Database (gnomAD), exomes 0.00001

Exome Aggregation Consortium (ExAC) 0.00002

Links

UniProtKB: Q9UPM8#VAR_076630 OMIM: 607244.0004 dbSNP: rs760021635 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.
AP4E1		-	-	GRCh38 GRCh37	529	565

Conditions - Germline

There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.

Submissions - Germline

There are no Germline Classifications in ClinVar for this variation. If you know of any, please consider submitting that information to ClinVar.

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.

Conditions - Somatic

There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.

Submissions - Somatic

There are no interpretations in ClinVar for this variation. If you know of any, please consider submitting that information to ClinVar.

Citations for somatic classification of this variant

There are no citations for somatic 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 rs760021635 ...

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 Sep 29, 2024

ClinVar Genomic variation as it relates to human health

NM_007347.5(AP4E1):c.1549G>A (p.Val517Ile)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Conditions - Somatic

Submissions - Somatic

Citations for somatic classification of this variant

Text-mined citations for rs760021635 ...