NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val) AND Marbach-Schaaf neurodevelopmental syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 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:: RCV002245307.3

Allele description [Variation Report for NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val)]

NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val)

Gene:

PRKAR1B:protein kinase cAMP-dependent type I regulatory subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.3

Genomic location:

Preferred name:

NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val)

HGVS:

NC_000007.14:g.579338G>A
NG_042811.1:g.153339C>T
NM_001164758.2:c.809C>T
NM_001164759.1:c.809C>T
NM_001164760.2:c.809C>TMANE SELECT
NM_001164761.2:c.809C>T
NM_001164762.2:c.809C>T
NM_002735.3:c.809C>T
NP_001158230.1:p.Ala270Val
NP_001158231.1:p.Ala270Val
NP_001158232.1:p.Ala270Val
NP_001158233.1:p.Ala270Val
NP_001158234.1:p.Ala270Val
NP_002726.1:p.Ala270Val
NC_000007.13:g.618975G>A

Protein change:

A270V

Links:

dbSNP: rs1317364396

NCBI 1000 Genomes Browser:

rs1317364396

Molecular consequence:

NM_001164758.2:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164759.1:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164760.2:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164761.2:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164762.2:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002735.3:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Marbach-Schaaf neurodevelopmental syndrome (MASNS)
Identifiers:: MONDO: MONDO:0859214; MedGen: C5562050; OMIM: 619680

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002513782	Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 11, 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

SCV002513782

Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 11, 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	yes	1	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 Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV002513782.1

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

Description

The detected change is not listed in control collectives (gnomAD) and has not been described in the literature or in the ClinVar database (as of April 11, 2022). Bioinformatically, it is classified as "probably disease-causing" (CADDphred 32). Based on the current state of knowledge, the variant can be classified as a “variant of uncertain significance” (ACMG criteria).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine