NM_001316349.2:c.140-45549A>G

Variant names:

• chr2-137010871-A-G
• rs979975
• NM_001316349.2:c.140-45549A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001316349.2(THSD7B):​c.140-45549A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.897 in 152,194 control chromosomes in the GnomAD database, including 61,741 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.90 (61741 hom., cov: 31)
• Consequence: THSD7B NM_001316349.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.66
• Publications: 3 publications found

Genes affected

THSD7B (HGNC:29348): (thrombospondin type 1 domain containing 7B) Predicted to be involved in actin cytoskeleton reorganization. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001316349.2. 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
	THSD7B	NM_001316349.2	MANE Select	c.140-45549A>G		intron	N/A	NP_001303278.1	Q9C0I4

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	THSD7B	ENST00000409968.6	TSL:5 MANE Select	c.140-45549A>G		intron	N/A	ENSP00000387145.1	Q9C0I4
	THSD7B	ENST00000472720.5	TSL:5	n.*106-45549A>G		intron	N/A	ENSP00000473349.1	R4GMU2

Frequencies

GnomAD3 genomes AF: 0.897 AC: 136478 AN: 152076 Hom.: 61697 Cov.: 31

Gnomad AFR AF: 0.778

Gnomad AMI AF: 0.963

Gnomad AMR AF: 0.906

Gnomad ASJ AF: 0.979

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.981

Gnomad FIN AF: 0.983

Gnomad MID AF: 0.962

Gnomad NFE AF: 0.935

Gnomad OTH AF: 0.916

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.897 AC: 136579 AN: 152194 Hom.: 61741 Cov.: 31 AF XY: 0.901 AC XY: 67066 AN XY: 74422

African (AFR) AF: 0.779 AC: 32320 AN: 41504

American (AMR) AF: 0.905 AC: 13837 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.979 AC: 3400 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5161 AN: 5164

South Asian (SAS) AF: 0.981 AC: 4728 AN: 4820

European-Finnish (FIN) AF: 0.983 AC: 10441 AN: 10620

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.935 AC: 63598 AN: 68016

Other (OTH) AF: 0.917 AC: 1938 AN: 2114

Alfa AF: 0.869 Hom.: 22297

Bravo AF: 0.883

Asia WGS AF: 0.980 AC: 3410 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	14
DANN	Benign	0.79
PhyloP100		1.7
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.17		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: rs979975; hg19: chr2-137768441;