NM_001141947.3(CCDC66):c.2689C>G (p.Leu897Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 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:: RCV004118077.1

Allele description [Variation Report for NM_001141947.3(CCDC66):c.2689C>G (p.Leu897Val)]

NM_001141947.3(CCDC66):c.2689C>G (p.Leu897Val)

Gene:

CCDC66:coiled-coil domain containing 66 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

Preferred name:

NM_001141947.3(CCDC66):c.2689C>G (p.Leu897Val)

HGVS:

NC_000003.12:g.56619830C>G
NM_001012506.5:c.2587C>G
NM_001139489.1:c.2587C>G
NM_001141947.3:c.2689C>GMANE SELECT
NM_001353147.1:c.2707C>G
NM_001353148.1:c.2671C>G
NM_001353149.1:c.2668C>G
NM_001353150.1:c.2620C>G
NM_001353151.1:c.2590C>G
NM_001353152.1:c.2587C>G
NM_001353153.1:c.2587C>G
NM_001353154.1:c.2560C>G
NM_001353155.1:c.2539C>G
NM_001353156.1:c.1792C>G
NM_001353158.1:c.1663C>G
NM_001353160.1:c.1597C>G
NP_001012524.4:p.Leu863Val
NP_001132961.1:p.Leu863Val
NP_001135419.1:p.Leu897Val
NP_001340076.1:p.Leu903Val
NP_001340077.1:p.Leu891Val
NP_001340078.1:p.Leu890Val
NP_001340079.1:p.Leu874Val
NP_001340080.1:p.Leu864Val
NP_001340081.1:p.Leu863Val
NP_001340082.1:p.Leu863Val
NP_001340083.1:p.Leu854Val
NP_001340084.1:p.Leu847Val
NP_001340085.1:p.Leu598Val
NP_001340087.1:p.Leu555Val
NP_001340089.1:p.Leu533Val
NC_000003.11:g.56653858C>G
NM_001141947.1:c.2689C>G
NR_024460.2:n.2757C>G
NR_148366.1:n.2887C>G
NR_148367.1:n.2891C>G
NR_148368.1:n.2808C>G
NR_148369.1:n.2759C>G
NR_148370.1:n.2761C>G
NR_148371.1:n.2970C>G
NR_148372.1:n.2943C>G
NR_148373.1:n.2958C>G
NR_148374.1:n.2960C>G
NR_148375.1:n.2827C>G
NR_148376.1:n.2840C>G
NR_148377.1:n.2789C>G
NR_148378.1:n.2658C>G

Protein change:

L533V

Molecular consequence:

NM_001012506.5:c.2587C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001139489.1:c.2587C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001141947.3:c.2689C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353147.1:c.2707C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353148.1:c.2671C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353149.1:c.2668C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353150.1:c.2620C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353151.1:c.2590C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353152.1:c.2587C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353153.1:c.2587C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353154.1:c.2560C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353155.1:c.2539C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353156.1:c.1792C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353158.1:c.1663C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353160.1:c.1597C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_024460.2:n.2757C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148366.1:n.2887C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148367.1:n.2891C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148368.1:n.2808C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148369.1:n.2759C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148370.1:n.2761C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148371.1:n.2970C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148372.1:n.2943C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148373.1:n.2958C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148374.1:n.2960C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148375.1:n.2827C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148376.1:n.2840C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148377.1:n.2789C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148378.1:n.2658C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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hypothetical protein RHGRI_008408 [Rhododendron griersonianum]
hypothetical protein RHGRI_008408 [Rhododendron griersonianum]
gi|2028819590|gb|KAG5558460.1||gnl| ACTNZ|Rhgri03G0225300.1

Protein
unnamed protein product [Arabidopsis arenosa]
unnamed protein product [Arabidopsis arenosa]
gi|1985655860|emb|CAE5967215.1|

Protein
hypothetical protein GOBAR_DD06330 [Gossypium barbadense]
hypothetical protein GOBAR_DD06330 [Gossypium barbadense]
gi|1344124020|gb|PPD96645.1||gnl|WG B|GOBAR_DD06330

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003591471	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 30, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003591471

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 30, 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, SCV003591471.2

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

Description

The c.2689C>G (p.L897V) alteration is located in exon 17 (coding exon 17) of the CCDC66 gene. This alteration results from a C to G substitution at nucleotide position 2689, causing the leucine (L) at amino acid position 897 to be replaced by a valine (V). 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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