NM_006311.4(NCOR1):c.6094C>G (p.Pro2032Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 12, 2023
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:: RCV004345761.1

Allele description [Variation Report for NM_006311.4(NCOR1):c.6094C>G (p.Pro2032Ala)]

NM_006311.4(NCOR1):c.6094C>G (p.Pro2032Ala)

Gene:

NCOR1:nuclear receptor corepressor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_006311.4(NCOR1):c.6094C>G (p.Pro2032Ala)

HGVS:

NC_000017.11:g.16057981G>C
NG_047111.1:g.163766C>G
NM_001190440.1:c.5785C>G
NM_006311.4:c.6094C>GMANE SELECT
NP_001177369.1:p.Pro1929Ala
NP_006302.2:p.Pro2032Ala
NC_000017.10:g.15961295G>C
NM_006311.3:c.6094C>G

Protein change:

P1929A

Molecular consequence:

NM_001190440.1:c.5785C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006311.4:c.6094C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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PREDICTED: Homo sapiens C-type lectin domain family 4 member E (CLEC4E), transcr...
PREDICTED: Homo sapiens C-type lectin domain family 4 member E (CLEC4E), transcript variant X1, mRNA
gi|2462531276|ref|XM_054371729.1|

Nucleotide
RecName: Full=Taste receptor type 2 member 14; Short=T2R14; AltName: Full=Taste ...
RecName: Full=Taste receptor type 2 member 14; Short=T2R14; AltName: Full=Taste receptor family B member 1; Short=TRB1
gi|29839658|sp|Q9NYV8.1|T2R14_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004064740	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004064740

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 12, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004064740.2

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

Description

The c.6094C>G (p.P2032A) alteration is located in exon 39 (coding exon 38) of the NCOR1 gene. This alteration results from a C to G substitution at nucleotide position 6094, causing the proline (P) at amino acid position 2032 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024

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