NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) AND Ritscher-Schinzel syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 2020
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:: RCV001730160.1

Allele description [Variation Report for NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)]

NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)

Gene:

WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.13

Genomic location:

Preferred name:

NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)

HGVS:

NC_000008.11:g.125047282T>A
NG_012636.1:g.49538A>T
NM_001330609.2:c.1985A>T
NM_014846.4:c.2429A>TMANE SELECT
NP_001317538.1:p.Lys662Met
NP_055661.3:p.Lys810Met
NC_000008.10:g.126059524T>A

Protein change:

K662M

Links:

dbSNP: rs780468544

NCBI 1000 Genomes Browser:

rs780468544

Molecular consequence:

NM_001330609.2:c.1985A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014846.4:c.2429A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ritscher-Schinzel syndrome 1 (RTSC1)
Identifiers:: MONDO: MONDO:0009073; MedGen: C4551776; Orphanet: 7; OMIM: 220210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001977019	Breda Genetics srl	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 22, 2020)	germline	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

SCV001977019

Breda Genetics srl

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 22, 2020)

germline

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Breda Genetics srl, SCV001977019.1

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

Description

The variant c.2429A>T (p.Lys810Met) in the WASHC5 gene is reported with an estimated allele frequency of 0.000003979 in gnomAD exomes, with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 5.41). In silico analysis indicates that the variant might be damaging.

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

Last Updated: Sep 29, 2024

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