NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 20, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000435246.17

Allele description [Variation Report for NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)]

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:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000593225	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 18, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000704635	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Dec 20, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000593225

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Nov 18, 2015)

germline

clinical testing

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

SCV000704635

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Dec 20, 2016)

germline

clinical testing

Citation Link

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
not provided	germline	no	not provided	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 Genetic Services Laboratory, University of Chicago, SCV000593225.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000704635.2

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

#	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 13, 2025

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