NM_024915.4:c.1098+9C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_024915.4(GRHL2):c.1098+9C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00522 in 1,549,974 control chromosomes in the GnomAD database, including 26 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_024915.4 intron
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 |
---|---|---|---|---|---|---|---|---|
GRHL2 | NM_024915.4 | c.1098+9C>T | intron_variant | Intron 8 of 15 | ENST00000646743.1 | NP_079191.2 | ||
GRHL2 | NM_001330593.2 | c.1050+9C>T | intron_variant | Intron 8 of 15 | NP_001317522.1 | |||
GRHL2 | XM_011517306.4 | c.1050+9C>T | intron_variant | Intron 8 of 15 | XP_011515608.1 | |||
GRHL2 | XM_011517307.4 | c.1098+9C>T | intron_variant | Intron 8 of 15 | XP_011515609.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00365 AC: 556AN: 152154Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00331 AC: 831AN: 250756Hom.: 5 AF XY: 0.00341 AC XY: 462AN XY: 135522
GnomAD4 exome AF: 0.00539 AC: 7537AN: 1397702Hom.: 25 Cov.: 23 AF XY: 0.00516 AC XY: 3607AN XY: 699144
GnomAD4 genome AF: 0.00365 AC: 556AN: 152272Hom.: 1 Cov.: 31 AF XY: 0.00326 AC XY: 243AN XY: 74452
ClinVar
Submissions by phenotype
not specified Benign:4
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. -
1098+9C>T in Intron 08 of GRHL2: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.6% (45/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS). -
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not provided Benign:2
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GRHL2: BS2 -
Autosomal dominant nonsyndromic hearing loss 28;C4014987:Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome;C4747961:Corneal dystrophy, posterior polymorphous, 4 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at