NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002308738.6

Allele description [Variation Report for NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)]

NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)

Genes:

IQCG:IQ motif containing G [Gene - OMIM - HGNC]
RPL35A:ribosomal protein L35a [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)

HGVS:

NC_000003.12:g.197951272A>G
NG_011743.1:g.6092A>G
NG_033072.1:g.13744T>C
NM_000996.4:c.125A>GMANE SELECT
NM_001316311.2:c.125A>G
NM_001323028.2:c.-49-7221T>C
NM_001323029.2:c.-374-5586T>C
NM_032263.5:c.-59-5586T>CMANE SELECT
NP_000987.2:p.Tyr42Cys
NP_001303240.1:p.Tyr42Cys
LRG_1129t1:c.125A>G
LRG_1129:g.6092A>G
LRG_1129p1:p.Tyr42Cys
NC_000003.11:g.197678143A>G
NM_000996.2:c.125A>G

Protein change:

Y42C

Molecular consequence:

NM_001323028.2:c.-49-7221T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001323029.2:c.-374-5586T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_032263.5:c.-59-5586T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000996.4:c.125A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001316311.2:c.125A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV002600916	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (May 10, 2022)	germline	clinical testing	Citation Link,
SCV004704303	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jan 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002600916

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(May 10, 2022)

germline

clinical testing

Citation Link,

SCV004704303

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Jan 1, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002600916.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25424902, 32241839, 29146883)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004704303.3

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

Description

RPL35A: PM2, PM6, PS4:Moderate, PP3

#	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: May 12, 2024

ClinVar

Relating variation to medicine