NM_080927.4(DCBLD2):c.1433C>T (p.Pro478Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 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:: RCV004079817.1

Allele description [Variation Report for NM_080927.4(DCBLD2):c.1433C>T (p.Pro478Leu)]

NM_080927.4(DCBLD2):c.1433C>T (p.Pro478Leu)

Gene:

DCBLD2:discoidin, CUB and LCCL domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q12.1

Genomic location:

Preferred name:

NM_080927.4(DCBLD2):c.1433C>T (p.Pro478Leu)

HGVS:

NC_000003.12:g.98811485G>A
NM_080927.4:c.1433C>TMANE SELECT
NP_563615.3:p.Pro478Leu
NC_000003.11:g.98530329G>A
NM_080927.3:c.1433C>T

Protein change:

P478L

Molecular consequence:

NM_080927.4:c.1433C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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MAG: hypothetical protein KatS3mg002_1180 [Candidatus Woesearchaeota archaeon]
MAG: hypothetical protein KatS3mg002_1180 [Candidatus Woesearchaeota archaeon]
gi|2315513441|dbj|GIU69944.1||gnl|W GB|GIU69944

Protein
Homo sapiens G protein subunit alpha 13 (GNA13), transcript variant 1, mRNA
Homo sapiens G protein subunit alpha 13 (GNA13), transcript variant 1, mRNA
gi|1519315114|ref|NM_006572.6|

Nucleotide
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|298905387|emb|CBN73474.1|

Protein
Downbeat nystagmus
Downbeat nystagmus

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003531314	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003531314

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 20, 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, SCV003531314.2

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

Description

The c.1433C>T (p.P478L) alteration is located in exon 11 (coding exon 11) of the DCBLD2 gene. This alteration results from a C to T substitution at nucleotide position 1433, causing the proline (P) at amino acid position 478 to be replaced by a leucine (L). 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 3, 2024

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