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NM_139315.3(TAF6):c.1540G>C (p.Ala514Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 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:
RCV002981951.2

Allele description [Variation Report for NM_139315.3(TAF6):c.1540G>C (p.Ala514Pro)]

NM_139315.3(TAF6):c.1540G>C (p.Ala514Pro)

Genes:
TAF6:TATA-box binding protein associated factor 6 [Gene - OMIM - HGNC]
AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_139315.3(TAF6):c.1540G>C (p.Ala514Pro)
HGVS:
  • NC_000007.14:g.100108042C>G
  • NG_016312.1:g.11536C>G
  • NG_029454.2:g.24129G>C
  • NM_001190415.2:c.1651G>C
  • NM_001363671.2:c.*1160C>G
  • NM_001364998.1:c.1540G>C
  • NM_001364999.1:c.1540G>C
  • NM_001365000.1:c.1510G>C
  • NM_001365001.1:c.1510G>C
  • NM_001365002.1:c.1510G>C
  • NM_001365003.1:c.1510G>C
  • NM_001365004.1:c.1678G>C
  • NM_004722.4:c.*1160C>GMANE SELECT
  • NM_005641.4:c.1540G>C
  • NM_139315.3:c.1540G>CMANE SELECT
  • NP_001177344.1:p.Ala551Pro
  • NP_001351927.1:p.Ala514Pro
  • NP_001351928.1:p.Ala514Pro
  • NP_001351929.1:p.Ala504Pro
  • NP_001351930.1:p.Ala504Pro
  • NP_001351931.1:p.Ala504Pro
  • NP_001351932.1:p.Ala504Pro
  • NP_001351933.1:p.Ala560Pro
  • NP_005632.1:p.Ala514Pro
  • NP_647476.1:p.Ala514Pro
  • NC_000007.13:g.99705665C>G
  • NG_029454.1:g.16817G>C
  • NM_001190415.1:c.1651G>C
  • NR_033792.2:n.1629G>C
Protein change:
A504P
Molecular consequence:
  • NM_001363671.2:c.*1160C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004722.4:c.*1160C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001190415.2:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364998.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364999.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365000.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365001.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365002.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365003.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365004.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005641.4:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139315.3:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033792.2:n.1629G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003710443Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 25, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003710443.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1651G>C (p.A551P) alteration is located in exon 14 (coding exon 14) of the TAF6 gene. This alteration results from a G to C substitution at nucleotide position 1651, causing the alanine (A) at amino acid position 551 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024