NM_022171.3(TCTA):c.229A>C (p.Asn77His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2024
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:: RCV004676621.1

Allele description [Variation Report for NM_022171.3(TCTA):c.229A>C (p.Asn77His)]

NM_022171.3(TCTA):c.229A>C (p.Asn77His)

Gene:

TCTA:T cell leukemia translocation altered [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_022171.3(TCTA):c.229A>C (p.Asn77His)

HGVS:

NC_000003.12:g.49413070A>C
NG_051308.1:g.4028T>G
NM_022171.3:c.229A>CMANE SELECT
NP_071503.1:p.Asn77His
LRG_1085:g.4028T>G
NC_000003.11:g.49450503A>C
NM_022171.2:c.229A>C

Protein change:

N77H

Molecular consequence:

NM_022171.3:c.229A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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PREDICTED: Brachypodium distachyon pyridoxal phosphate homeostasis protein (LOC1...
PREDICTED: Brachypodium distachyon pyridoxal phosphate homeostasis protein (LOC100822956), mRNA
gi|1371068612|ref|XM_003568877.4|

Nucleotide
oligo-1,6-glucosidase IMA2 [Saccharomyces cerevisiae S288C]
oligo-1,6-glucosidase IMA2 [Saccharomyces cerevisiae S288C]
gi|6324416|ref|NP_014485.1|

Protein
Synovial Fluid
Synovial Fluid
The clear, viscous fluid secreted by the SYNOVIAL MEMBRANE. It contains mucin, albumin, fat, and mineral salts and serves to lubricate joints.<br/>

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005168311	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 31, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005168311

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 31, 2024)

germline

clinical testing

Citation Link

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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, SCV005168311.1

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

Description

The c.229A>C (p.N77H) alteration is located in exon 2 (coding exon 2) of the TCTA gene. This alteration results from a A to C substitution at nucleotide position 229, causing the asparagine (N) at amino acid position 77 to be replaced by a histidine (H). 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: Aug 11, 2024

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