NM_003198.3(ELOA):c.2002T>C (p.Ser668Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 12, 2021
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:: RCV004380274.1

Allele description [Variation Report for NM_003198.3(ELOA):c.2002T>C (p.Ser668Pro)]

NM_003198.3(ELOA):c.2002T>C (p.Ser668Pro)

Gene:

ELOA:elongin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_003198.3(ELOA):c.2002T>C (p.Ser668Pro)

HGVS:

NC_000001.11:g.23756303T>C
NM_003198.3:c.2002T>CMANE SELECT
NP_003189.3:p.Ser668Pro
NC_000001.10:g.24082793T>C
NM_003198.2:c.2080T>C

Protein change:

S668P

Molecular consequence:

NM_003198.3:c.2002T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens growth differentiation factor 5 (GDF5), transcript variant 2, mRNA
Homo sapiens growth differentiation factor 5 (GDF5), transcript variant 2, mRNA
gi|1519311431|ref|NM_000557.5|

Nucleotide
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 2C, Hunter-Thompson type

MedGen
C2930970[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004864431	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004864431

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 12, 2021)

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, SCV004864431.1

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

Description

The c.2080T>C (p.S694P) alteration is located in exon 9 (coding exon 9) of the TCEB3 gene. This alteration results from a T to C substitution at nucleotide position 2080, causing the serine (S) at amino acid position 694 to be replaced by a proline (P). 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: May 7, 2024

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