NM_019044.5(CCDC93):c.1447C>T (p.Arg483Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 4, 2022
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:: RCV004085516.1

Allele description [Variation Report for NM_019044.5(CCDC93):c.1447C>T (p.Arg483Cys)]

NM_019044.5(CCDC93):c.1447C>T (p.Arg483Cys)

Gene:

CCDC93:coiled-coil domain containing 93 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.1

Genomic location:

Preferred name:

NM_019044.5(CCDC93):c.1447C>T (p.Arg483Cys)

HGVS:

NC_000002.12:g.117941264G>A
NM_019044.5:c.1447C>TMANE SELECT
NP_061917.3:p.Arg483Cys
NC_000002.11:g.118698840G>A
NM_019044.4:c.1447C>T

Protein change:

R483C

Molecular consequence:

NM_019044.5:c.1447C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens isolate NA18970b CD5 molecule (CD5) gene, exons 3 through 10 and pa...
Homo sapiens isolate NA18970b CD5 molecule (CD5) gene, exons 3 through 10 and partial cds
gi|374720854|gb|JN159852.1|

Nucleotide
Lentinus squarrosulus/Pleurotus sp. 'florida' fusant strain pfls 1s 18S ribosoma...
Lentinus squarrosulus/Pleurotus sp. 'florida' fusant strain pfls 1s 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|575669177|gb|KF150318.1|

Nucleotide
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|18697123|emb|CAD23817.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003542734	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003542734

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 4, 2022)

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, SCV003542734.2

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

Description

The c.1447C>T (p.R483C) alteration is located in exon 19 (coding exon 19) of the CCDC93 gene. This alteration results from a C to T substitution at nucleotide position 1447, causing the arginine (R) at amino acid position 483 to be replaced by a cysteine (C). 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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