1-32187990-C-G

Variant names:

• chr1-32187990-C-G
• rs796903727
• NM_175852.4:c.634C>G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_175852.4(TXLNA):​c.634C>G​(p.Leu212Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L212F) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: TXLNA NM_175852.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.38

Genes affected

TXLNA (HGNC:30685): (taxilin alpha) Predicted to enable syntaxin binding activity. Predicted to be involved in exocytosis. Predicted to act upstream of or within B cell activation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.045544744).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TXLNA	NM_175852.4	c.634C>G	p.Leu212Val	missense_variant	Exon 5 of 11	ENST00000373610.8	NP_787048.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TXLNA	ENST00000373610.8	c.634C>G	p.Leu212Val	missense_variant	Exon 5 of 11	1	NM_175852.4	ENSP00000362712.3
TXLNA	ENST00000373609.1	c.634C>G	p.Leu212Val	missense_variant	Exon 4 of 10	1		ENSP00000362711.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.059
BayesDel_addAF	Benign	-0.28	T
BayesDel_noAF	Benign	-0.64
CADD	Benign	18
DANN	Benign	0.90
DEOGEN2	Benign	0.074	T;T
Eigen	Benign	-0.59
Eigen_PC	Benign	-0.39
FATHMM_MKL	Uncertain	0.80	D
LIST_S2	Benign	0.46	.;T
M_CAP	Benign	0.0066	T
MetaRNN	Benign	0.046	T;T
MetaSVM	Benign	-1.0	T
MutationAssessor	Benign	-0.58	N;N
PhyloP100		2.4
PrimateAI	Uncertain	0.53	T
PROVEAN	Benign	-0.62	N;N
REVEL	Benign	0.018
Sift	Benign	0.31	T;T
Sift4G	Benign	0.57	T;T
Polyphen		0.0040	B;B
Vest4		0.17
MutPred		0.34		Gain of methylation at K215 (P = 0.0568);Gain of methylation at K215 (P = 0.0568);
MVP		0.068
MPC		0.40
ClinPred		0.078	T
GERP RS		1.8
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7
Varity_R		0.031
gMVP		0.048
Mutation Taster		=94/6	polymorphism

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

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Other links and lift over

dbSNP: rs796903727; hg19: chr1-32653591;