NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 5, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV001560495.15

Allele description [Variation Report for NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)]

NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)

Gene:

CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)

HGVS:

NC_000003.12:g.9940964G>A
NG_017069.1:g.12124G>A
NM_001031717.4:c.575G>A
NM_001077415.3:c.575G>AMANE SELECT
NM_001374316.1:c.575G>A
NM_001374317.1:c.575G>A
NM_001374318.1:c.575G>A
NM_001374319.1:c.575G>A
NM_001374320.1:c.575G>A
NM_015513.6:c.575G>A
NP_001026887.2:p.Cys192Tyr
NP_001070883.2:p.Cys192Tyr
NP_001361245.1:p.Cys192Tyr
NP_001361246.1:p.Cys192Tyr
NP_001361247.1:p.Cys192Tyr
NP_001361248.1:p.Cys192Tyr
NP_001361249.1:p.Cys192Tyr
NP_056328.3:p.Cys192Tyr
NC_000003.11:g.9982648G>A
NM_001031717.3:c.575G>A
NM_015513.4:c.575G>A
NR_164475.1:n.613G>A
NR_164476.1:n.589G>A
NR_164477.1:n.963G>A
p.Cys192Tyr

Protein change:

C192Y; CYS192TYR

Links:

OMIM: 607170.0006; dbSNP: rs201866563

NCBI 1000 Genomes Browser:

rs201866563

Molecular consequence:

NM_001031717.4:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077415.3:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374316.1:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374317.1:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374318.1:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374319.1:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374320.1:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015513.6:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_164475.1:n.613G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164476.1:n.589G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164477.1:n.963G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105377558), transcript varian...
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105377558), transcript variant X2, ncRNA
gi|2217353675|ref|XR_007058383.1|

Nucleotide
Pde8a phosphodiesterase 8A [Mus musculus]
Pde8a phosphodiesterase 8A [Mus musculus]
Gene ID:18584

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001782921	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 5, 2024)	germline	clinical testing	Citation Link,
SCV004146889	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001782921

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 5, 2024)

germline

clinical testing

Citation Link,

SCV004146889

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Uncertain significance
(Aug 1, 2023)

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, SCV001782921.4

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

Description

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: 32437232, 37947183)

#	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, SCV004146889.10

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

Description

CRELD1: 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: Oct 20, 2024

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