NM_002615.7:c.215C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002615.7(SERPINF1):c.215C>T(p.Thr72Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.634 in 1,613,816 control chromosomes in the GnomAD database, including 329,446 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002615.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINF1 | NM_002615.7 | c.215C>T | p.Thr72Met | missense_variant | Exon 3 of 8 | ENST00000254722.9 | NP_002606.3 | |
SERPINF1 | NM_001329904.2 | c.-347C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 7 | NP_001316833.1 | |||
SERPINF1 | NM_001329903.2 | c.215C>T | p.Thr72Met | missense_variant | Exon 3 of 8 | NP_001316832.1 | ||
SERPINF1 | NM_001329904.2 | c.-347C>T | 5_prime_UTR_variant | Exon 2 of 7 | NP_001316833.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.679 AC: 103173AN: 151970Hom.: 35998 Cov.: 32
GnomAD3 exomes AF: 0.609 AC: 153242AN: 251434Hom.: 48150 AF XY: 0.606 AC XY: 82331AN XY: 135904
GnomAD4 exome AF: 0.630 AC: 920378AN: 1461726Hom.: 293400 Cov.: 74 AF XY: 0.625 AC XY: 454704AN XY: 727170
GnomAD4 genome AF: 0.679 AC: 103276AN: 152090Hom.: 36046 Cov.: 32 AF XY: 0.671 AC XY: 49891AN XY: 74334
ClinVar
Submissions by phenotype
not specified Benign:4
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Osteogenesis imperfecta type 6 Benign:3
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This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
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not provided Benign:2
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Osteogenesis imperfecta Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at