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NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 22, 2016
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:
RCV002311321.8

Allele description

NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)

Genes:
AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
HGVS:
  • NC_000001.11:g.113895826T>C
  • NG_031901.1:g.14294A>G
  • NM_001253852.3:c.1723A>GMANE SELECT
  • NM_001253853.3:c.1426A>G
  • NM_001308312.2:c.1219A>G
  • NM_006594.5:c.1723A>G
  • NP_001240781.1:p.Ile575Val
  • NP_001240782.1:p.Ile476Val
  • NP_001295241.1:p.Ile407Val
  • NP_006585.2:p.Ile575Val
  • NC_000001.10:g.114438448T>C
  • NM_006594.2:c.1723A>G
  • NM_006594.3:c.1723A>G
  • NM_006594.4:c.1723A>G
Protein change:
I407V
Links:
dbSNP: rs114734921
NCBI 1000 Genomes Browser:
rs114734921
Molecular consequence:
  • NM_001253852.3:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001253853.3:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308312.2:c.1219A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006594.5:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000846913Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)
Benign
(Jun 22, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000846913.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024