NM_001330640.2(DENND4C):c.3046C>A (p.Pro1016Thr) 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:: RCV004135678.1

Allele description [Variation Report for NM_001330640.2(DENND4C):c.3046C>A (p.Pro1016Thr)]

NM_001330640.2(DENND4C):c.3046C>A (p.Pro1016Thr)

Gene:

DENND4C:DENN domain containing 4C [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p22.1

Genomic location:

Preferred name:

NM_001330640.2(DENND4C):c.3046C>A (p.Pro1016Thr)

HGVS:

NC_000009.12:g.19342674C>A
NM_001330640.2:c.3046C>AMANE SELECT
NM_001386026.2:c.3046C>A
NM_001386030.1:c.2794C>A
NM_001386031.1:c.1351C>A
NM_001386032.1:c.1540C>A
NM_001386034.1:c.1540C>A
NM_001386035.1:c.1990C>A
NM_001386036.1:c.1864C>A
NM_001386037.1:c.2839C>A
NM_001386038.1:c.3046C>A
NM_001386039.1:c.1540C>A
NM_001386040.1:c.3028C>A
NM_001386041.1:c.2839C>A
NM_001386042.1:c.2899C>A
NM_001386043.1:c.2338C>A
NM_001386044.1:c.2338C>A
NM_001386045.1:c.3046C>A
NM_001386046.1:c.2839C>A
NM_001386047.1:c.3046C>A
NM_001386048.1:c.2338C>A
NM_017925.7:c.2899C>A
NP_001317569.1:p.Pro1016Thr
NP_001372955.1:p.Pro1016Thr
NP_001372959.1:p.Pro932Thr
NP_001372960.1:p.Pro451Thr
NP_001372961.1:p.Pro514Thr
NP_001372963.1:p.Pro514Thr
NP_001372964.1:p.Pro664Thr
NP_001372965.1:p.Pro622Thr
NP_001372966.1:p.Pro947Thr
NP_001372967.1:p.Pro1016Thr
NP_001372968.1:p.Pro514Thr
NP_001372969.1:p.Pro1010Thr
NP_001372970.1:p.Pro947Thr
NP_001372971.1:p.Pro967Thr
NP_001372972.1:p.Pro780Thr
NP_001372973.1:p.Pro780Thr
NP_001372974.1:p.Pro1016Thr
NP_001372975.1:p.Pro947Thr
NP_001372976.1:p.Pro1016Thr
NP_001372977.1:p.Pro780Thr
NP_060395.5:p.Pro967Thr
NC_000009.11:g.19342672C>A
NM_017925.4:c.2191C>A
NR_073201.4:n.2923C>A
NR_169842.1:n.3384C>A
NR_169843.1:n.3204C>A
NR_169844.1:n.3129C>A
NR_169845.1:n.3276C>A
NR_169846.1:n.2818C>A
NR_169847.1:n.2890C>A
NR_169848.1:n.3028C>A
NR_169849.1:n.3165C>A
NR_169850.1:n.3300C>A
NR_169851.1:n.3030C>A
NR_169852.1:n.3476C>A
NR_169853.1:n.3057C>A
NR_169854.1:n.3404C>A

Protein change:

P1010T

Molecular consequence:

NM_001330640.2:c.3046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386026.2:c.3046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386030.1:c.2794C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386031.1:c.1351C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386032.1:c.1540C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386034.1:c.1540C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386035.1:c.1990C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386036.1:c.1864C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386037.1:c.2839C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386038.1:c.3046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386039.1:c.1540C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386040.1:c.3028C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386041.1:c.2839C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386042.1:c.2899C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386043.1:c.2338C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386044.1:c.2338C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386045.1:c.3046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386046.1:c.2839C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386047.1:c.3046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386048.1:c.2338C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017925.7:c.2899C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_073201.4:n.2923C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169842.1:n.3384C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169843.1:n.3204C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169844.1:n.3129C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169845.1:n.3276C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169846.1:n.2818C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169847.1:n.2890C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169848.1:n.3028C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169849.1:n.3165C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169850.1:n.3300C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169851.1:n.3030C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169852.1:n.3476C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169853.1:n.3057C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169854.1:n.3404C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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NADH dehydrogenase subunit 2 (mitochondrion) [Pachycephala arctitorquis kebirens...
NADH dehydrogenase subunit 2 (mitochondrion) [Pachycephala arctitorquis kebirensis]
gi|1607271927|gb|QBS54864.1|

Protein
Campylobacter ureolyticus strain NCTC10941, whole genome shotgun sequencing proj...
Campylobacter ureolyticus strain NCTC10941, whole genome shotgun sequencing project
gi|1445036497|ref|NZ_UFUU00000000.1 FUU01000000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003610292	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

SCV003610292

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, SCV003610292.2

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

Description

The c.2191C>A (p.P731T) alteration is located in exon 17 (coding exon 17) of the DENND4C gene. This alteration results from a C to A substitution at nucleotide position 2191, causing the proline (P) at amino acid position 731 to be replaced by a threonine (T). 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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