NM_032027.3(TM2D1):c.376G>A (p.Ala126Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 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:: RCV004129116.1

Allele description [Variation Report for NM_032027.3(TM2D1):c.376G>A (p.Ala126Thr)]

NM_032027.3(TM2D1):c.376G>A (p.Ala126Thr)

Gene:

TM2D1:TM2 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_032027.3(TM2D1):c.376G>A (p.Ala126Thr)

HGVS:

NC_000001.11:g.61700997C>T
NM_032027.3:c.376G>AMANE SELECT
NP_114416.1:p.Ala126Thr
NC_000001.10:g.62166669C>T
NM_032027.2:c.376G>A
NR_135160.2:n.397G>A
NR_135161.2:n.397G>A
NR_135162.2:n.420G>A

Protein change:

A126T

Molecular consequence:

NM_032027.3:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_135160.2:n.397G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135161.2:n.397G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135162.2:n.420G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus general transcription factor IIB (Gtf2b), mRNA
Mus musculus general transcription factor IIB (Gtf2b), mRNA
gi|21704075|ref|NM_145546.1|

Nucleotide
RecName: Full=Transcription initiation factor IIB; AltName: Full=General transcr...
RecName: Full=Transcription initiation factor IIB; AltName: Full=General transcription factor TFIIB; AltName: Full=RNA polymerase II alpha initiation factor
gi|51703324|sp|P62915.1|TF2B_MOUSE

Protein
RecName: Full=Radial spoke head 1 homolog; AltName: Full=Male meiotic metaphase ...
RecName: Full=Radial spoke head 1 homolog; AltName: Full=Male meiotic metaphase chromosome-associated acidic protein; AltName: Full=Meichroacidin; AltName: Full=Testis-specific gene A2 protein
gi|21542278|sp|Q8VIG3.2|RSPH1_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003610886	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003610886

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 17, 2022)

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, SCV003610886.2

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

Description

The c.376G>A (p.A126T) alteration is located in exon 4 (coding exon 4) of the TM2D1 gene. This alteration results from a G to A substitution at nucleotide position 376, causing the alanine (A) at amino acid position 126 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: Oct 26, 2024

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