9-99105255-TGGCGGCGGCGGCGGCGGC-TGGCGGCGGCGGCGGC
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBS1BS2
The NM_004612.4(TGFBR1):c.76_78delGCG(p.Ala26del) variant causes a conservative inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0017 in 1,041,918 control chromosomes in the GnomAD database, including 24 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004612.4 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00703 AC: 1001AN: 142418Hom.: 16 Cov.: 30
GnomAD3 exomes AF: 0.00514 AC: 3AN: 584Hom.: 0 AF XY: 0.00588 AC XY: 2AN XY: 340
GnomAD4 exome AF: 0.000841 AC: 756AN: 899398Hom.: 6 AF XY: 0.000996 AC XY: 420AN XY: 421838
GnomAD4 genome AF: 0.00714 AC: 1017AN: 142520Hom.: 18 Cov.: 30 AF XY: 0.00718 AC XY: 498AN XY: 69398
ClinVar
Submissions by phenotype
not provided Benign:4
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TGFBR1: BP3, BS1, BS2 -
not specified Benign:3
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Familial thoracic aortic aneurysm and aortic dissection Benign:3
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
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Ehlers-Danlos syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at