6-32369909-A-T

Variant names:

• chr6-32369909-A-T
• rs3129941
• NM_001286474.2:c.88T>A

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001286474.2(TSBP1):​c.88T>A​(p.Cys30Ser) 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. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 31)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: TSBP1 NM_001286474.2 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.112
• Publications: 57 publications found

Genes affected

TSBP1 (HGNC:13922): (testis expressed basic protein 1) Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

TSBP1-AS1 (HGNC:39756): (TSBP1 and BTNL2 antisense RNA 1)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.07019669).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001286474.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TSBP1	NM_001286474.2	MANE Select	c.88T>A	p.Cys30Ser	missense	Exon 2 of 26	NP_001273403.1	A0A1U9X7D1
	TSBP1	NM_006781.5		c.88T>A	p.Cys30Ser	missense	Exon 2 of 23	NP_006772.3
	TSBP1	NM_001286475.2		c.88T>A	p.Cys30Ser	missense	Exon 2 of 24	NP_001273404.1	E9PLW3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TSBP1	ENST00000533191.6	TSL:1 MANE Select	c.88T>A	p.Cys30Ser	missense	Exon 2 of 26	ENSP00000431199.1	Q5SRN2-3
	TSBP1	ENST00000442822.6	TSL:1	c.88T>A	p.Cys30Ser	missense	Exon 2 of 26	ENSP00000411164.2	C9J9T8
	TSBP1	ENST00000447241.6	TSL:5	c.88T>A	p.Cys30Ser	missense	Exon 2 of 23	ENSP00000415517.2	Q5SRN2-1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 1450580 Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0 AN XY: 722242

African (AFR) AF: 0.00 AC: 0 AN: 33270

American (AMR) AF: 0.00 AC: 0 AN: 44716

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26070

East Asian (EAS) AF: 0.00 AC: 0 AN: 39644

South Asian (SAS) AF: 0.00 AC: 0 AN: 86032

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 52308

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5744

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 1102798

Other (OTH) AF: 0.00 AC: 0 AN: 59998

GnomAD4 genome Cov.: 31

Alfa AF: 0.00 Hom.: 150534

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.18
BayesDel_addAF	Benign	-0.21	T
BayesDel_noAF	Benign	-0.55
CADD	Benign	12
DANN	Benign	0.74
Eigen	Benign	-1.1
Eigen_PC	Benign	-1.1
FATHMM_MKL	Benign	0.017	N
LIST_S2	Benign	0.61	T
M_CAP	Benign	0.0017	T
MetaRNN	Benign	0.070	T
MetaSVM	Benign	-0.91	T
PhyloP100		0.11
PROVEAN	Benign	0.37	N
REVEL	Benign	0.10
Sift	Benign	0.12	T
Sift4G	Benign	0.26	T
Vest4		0.20
MutPred		0.43		Gain of disorder (P = 9e-04)
MVP		0.055
MPC		0.37
ClinPred		0.030	T
GERP RS		1.8
gMVP		0.023
Mutation Taster		=100/0	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

Other links and lift over

dbSNP: rs3129941; hg19: chr6-32337686;