NM_006283.3(TACC1):c.986G>A (p.Gly329Glu) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 6, 2023
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:: RCV004302667.1

Allele description [Variation Report for NM_006283.3(TACC1):c.986G>A (p.Gly329Glu)]

NM_006283.3(TACC1):c.986G>A (p.Gly329Glu)

Gene:

TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.22

Genomic location:

Preferred name:

NM_006283.3(TACC1):c.986G>A (p.Gly329Glu)

HGVS:

NC_000008.11:g.38820230G>A
NM_001122824.2:c.162-5078G>A
NM_001146216.3:c.401G>A
NM_001330521.2:c.401G>A
NM_001352778.2:c.1034G>A
NM_001352779.2:c.986G>A
NM_001352780.2:c.1034G>A
NM_001352781.2:c.986G>A
NM_001352782.2:c.902G>A
NM_001352783.2:c.986G>A
NM_001352784.2:c.902G>A
NM_001352785.2:c.878G>A
NM_001352786.2:c.851G>A
NM_001352787.2:c.878G>A
NM_001352788.2:c.401G>A
NM_001352789.2:c.401G>A
NM_001352790.2:c.401G>A
NM_001352791.1:c.401G>A
NM_001352792.2:c.401G>A
NM_001352793.2:c.401G>A
NM_001352794.2:c.401G>A
NM_001352795.2:c.401G>A
NM_001352796.2:c.401G>A
NM_001352797.2:c.401G>A
NM_001352798.1:c.401G>A
NM_001352799.2:c.401G>A
NM_001352800.2:c.986G>A
NM_001352801.2:c.162-3760G>A
NM_001352802.1:c.401G>A
NM_001352803.2:c.162-5078G>A
NM_001352804.2:c.78-5078G>A
NM_006283.3:c.986G>AMANE SELECT
NP_001139688.1:p.Gly134Glu
NP_001317450.1:p.Gly134Glu
NP_001339707.1:p.Gly345Glu
NP_001339708.1:p.Gly329Glu
NP_001339709.1:p.Gly345Glu
NP_001339710.1:p.Gly329Glu
NP_001339711.1:p.Gly301Glu
NP_001339712.1:p.Gly329Glu
NP_001339713.1:p.Gly301Glu
NP_001339714.1:p.Gly293Glu
NP_001339715.1:p.Gly284Glu
NP_001339716.1:p.Gly293Glu
NP_001339717.1:p.Gly134Glu
NP_001339718.1:p.Gly134Glu
NP_001339719.1:p.Gly134Glu
NP_001339720.1:p.Gly134Glu
NP_001339721.1:p.Gly134Glu
NP_001339722.1:p.Gly134Glu
NP_001339723.1:p.Gly134Glu
NP_001339724.1:p.Gly134Glu
NP_001339725.1:p.Gly134Glu
NP_001339726.1:p.Gly134Glu
NP_001339727.1:p.Gly134Glu
NP_001339728.1:p.Gly134Glu
NP_001339729.1:p.Gly329Glu
NP_001339731.1:p.Gly134Glu
NP_006274.2:p.Gly329Glu
NC_000008.10:g.38677748G>A
NM_006283.2:c.986G>A
NR_148050.2:n.915G>A

Protein change:

G134E

Molecular consequence:

NM_001122824.2:c.162-5078G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001352801.2:c.162-3760G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001352803.2:c.162-5078G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001352804.2:c.78-5078G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001146216.3:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330521.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352778.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352779.2:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352780.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352781.2:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352782.2:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352783.2:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352784.2:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352785.2:c.878G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352786.2:c.851G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352787.2:c.878G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352788.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352789.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352790.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352791.1:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352792.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352793.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352794.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352795.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352796.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352797.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352798.1:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352799.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352800.2:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352802.1:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006283.3:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148050.2:n.915G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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PREDICTED: Homo sapiens MKS transition zone complex subunit 1 (MKS1), transcript...
PREDICTED: Homo sapiens MKS transition zone complex subunit 1 (MKS1), transcript variant X2, mRNA
gi|2462556217|ref|XM_054316581.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003959379	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jun 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003959379

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jun 6, 2023)

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, SCV003959379.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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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