NM_002890.3(RASA1):c.669G>C (p.Gln223His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 7, 2017
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:: RCV000681052.10

Allele description [Variation Report for NM_002890.3(RASA1):c.669G>C (p.Gln223His)]

NM_002890.3(RASA1):c.669G>C (p.Gln223His)

Genes:

RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

Preferred name:

NM_002890.3(RASA1):c.669G>C (p.Gln223His)

HGVS:

NC_000005.10:g.87331477G>C
NG_011650.1:g.68144G>C
NM_001364075.2:c.934-18682C>G
NM_002890.3:c.669G>CMANE SELECT
NM_022650.3:c.138G>C
NP_002881.1:p.Gln223His
NP_072179.1:p.Gln46His
NC_000005.9:g.86627294G>C
NM_002890.2:c.669G>C

Protein change:

Q223H

Links:

dbSNP: rs1252085868

NCBI 1000 Genomes Browser:

rs1252085868

Molecular consequence:

NM_001364075.2:c.934-18682C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_002890.3:c.669G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022650.3:c.138G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000808505	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Nov 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000808505

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Nov 7, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000808505.1

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

Description

The Q223H variant in the RASA1 gene has been reported previously in an individual with neurofibromatosis, however this individual also had an NF1 nonsense variant (Maruoka et al., 2014). The Q223H variant is not observed in large population cohorts (Lek et al., 2016). The Q223H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.We interpret Q223H as a variant of uncertain significance.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine