NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs) AND Fetal akinesia deformation sequence 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 28, 2022
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:: RCV003463453.1

Allele description [Variation Report for NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)]

NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)

Gene:

RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)

HGVS:

NC_000011.10:g.47441874_47441875insT
NG_008312.1:g.12304_12305insA
NG_008312.2:g.12261_12262insA
NM_005055.5:c.737_738insAMANE SELECT
NM_032645.5:c.737_738insA
NP_005046.2:p.Leu247fs
NP_116034.2:p.Leu247fs
NC_000011.9:g.47463426_47463427insT

Protein change:

L247fs

Molecular consequence:

NM_005055.5:c.737_738insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032645.5:c.737_738insA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fetal akinesia deformation sequence 2
Identifiers:: MONDO: MONDO:0100102; MedGen: C4760576; OMIM: 618388

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004206117	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 28, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004206117

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 28, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	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 Baylor Genetics, SCV004206117.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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