rs11372930

Variant names:

• chr9-97592070-TA-T
• rs11372930
• NM_003275.4:c.1015+637delA

Your query was ambiguous. Multiple possible variants found:

• chr9-97592070-TA-T
• chr9-97592070-TA-TAA

Variant summary

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

The NM_003275.4(TMOD1):​c.1015+637delA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: TMOD1 NM_003275.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0330
• Publications: 0 publications found

Genes affected

TMOD1 (HGNC:11871): (tropomodulin 1) This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TMOD1	NM_003275.4	c.1015+637delA		intron_variant	Intron 9 of 9	ENST00000259365.9	NP_003266.1
TMOD1	NM_001166116.2	c.1015+637delA		intron_variant	Intron 9 of 9		NP_001159588.1
TMOD1	XM_047423825.1	c.607+637delA		intron_variant	Intron 7 of 7		XP_047279781.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TMOD1	ENST00000259365.9	c.1015+636delA		intron_variant	Intron 9 of 9	1	NM_003275.4	ENSP00000259365.3
TMOD1	ENST00000395211.6	c.1015+636delA		intron_variant	Intron 9 of 9	1		ENSP00000378637.2
TMOD1	ENST00000375175.1	c.634+636delA		intron_variant	Intron 6 of 6	2		ENSP00000364318.1

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.033

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: rs11372930; hg19: chr9-100354352;