rs4145199

Variant names:

• chr6-40384102-G-A
• rs4145199
• ENST00000373171.4:n.3093C>T

Your query was ambiguous. Multiple possible variants found:

• chr6-40384102-G-A
• chr6-40384102-G-C

Variant summary

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

The ENST00000373171.4(LINC00951):​n.3093C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.864 in 152,178 control chromosomes in the GnomAD database, including 56,970 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 0.86 (56970 hom., cov: 32)
• Consequence: LINC00951 ENST00000373171.4 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.237
• Publications: 4 publications found

Genes affected

LINC00951 (HGNC:48662): (long intergenic non-protein coding RNA 951)

TDRG1 (HGNC:43642): (testis development related 1) Predicted to be located in cytoplasm. [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=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.889 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000373171.4. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC00951	ENST00000373171.4	TSL:2	n.3093C>T		non_coding_transcript_exon	Exon 1 of 4
	TDRG1	ENST00000664585.1		n.718-2395G>A		intron	N/A
	TDRG1	ENST00000737797.1		n.480-2395G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.864 AC: 131340 AN: 152060 Hom.: 56934 Cov.: 32

Gnomad AFR AF: 0.853

Gnomad AMI AF: 0.796

Gnomad AMR AF: 0.848

Gnomad ASJ AF: 0.918

Gnomad EAS AF: 0.693

Gnomad SAS AF: 0.871

Gnomad FIN AF: 0.793

Gnomad MID AF: 0.934

Gnomad NFE AF: 0.895

Gnomad OTH AF: 0.883

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

GnomAD4 genome AF: 0.864 AC: 131429 AN: 152178 Hom.: 56970 Cov.: 32 AF XY: 0.859 AC XY: 63880 AN XY: 74408

African (AFR) AF: 0.852 AC: 35370 AN: 41494

American (AMR) AF: 0.847 AC: 12957 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.918 AC: 3182 AN: 3468

East Asian (EAS) AF: 0.694 AC: 3590 AN: 5174

South Asian (SAS) AF: 0.870 AC: 4191 AN: 4818

European-Finnish (FIN) AF: 0.793 AC: 8393 AN: 10590

Middle Eastern (MID) AF: 0.942 AC: 277 AN: 294

European-Non Finnish (NFE) AF: 0.895 AC: 60883 AN: 68022

Other (OTH) AF: 0.880 AC: 1863 AN: 2116

Alfa AF: 0.885 Hom.: 251959

Bravo AF: 0.863

Asia WGS AF: 0.792 AC: 2755 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.54
DANN	Benign	0.52
PhyloP100		-0.24

Splicing

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

Other links and lift over

dbSNP: rs4145199; hg19: chr6-40351841;