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NM_001253852.3(AP4B1):c.664del (p.Leu222fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 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:
RCV001008109.2

Allele description [Variation Report for NM_001253852.3(AP4B1):c.664del (p.Leu222fs)]

NM_001253852.3(AP4B1):c.664del (p.Leu222fs)

Genes:
AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
Other names:
p.Leu222CysfsTer31
HGVS:
  • NC_000001.11:g.113900354del
  • NG_031901.1:g.9766del
  • NG_057565.1:g.736del
  • NM_001253852.3:c.664delMANE SELECT
  • NM_001253853.3:c.367del
  • NM_001308312.2:c.160del
  • NM_006594.5:c.664del
  • NP_001240781.1:p.Leu222fs
  • NP_001240782.1:p.Leu123fs
  • NP_001295241.1:p.Leu54fs
  • NP_006585.2:p.Leu222fs
  • LRG_1219:g.736del
  • NC_000001.10:g.114442976del
  • NM_001253852.1:c.664delC
  • NM_001253852.2:c.664del
  • NM_006594.3:c.664del
  • NM_006594.3:c.664delC
  • NR_037864.1:n.851del
  • NR_125965.1:n.1019del
Protein change:
L123fs
Links:
OMIM: 607245.0002; dbSNP: rs1571563769
NCBI 1000 Genomes Browser:
rs1571563769
Molecular consequence:
  • NM_001253852.3:c.664del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001253853.3:c.367del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308312.2:c.160del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006594.5:c.664del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037864.1:n.851del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125965.1:n.1019del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167859GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 25, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001167859.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24781758, 22290197, 29193663, 25693842, 29430868, 24065543, 24700674, 32056211, 33144682)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024