chr20-6075395-T-TA

Position:

• chr20-6075395-T-TA

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_017671.5(FERMT1):​c.*1777_*1778insT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 1.0 (76169 hom., cov: 0)
  • Exomes 𝑓: 1.0 (71 hom.)
• Consequence: FERMT1 NM_017671.5 3_prime_UTR
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.234

Genes affected

FERMT1 (HGNC:15889): (FERM domain containing kindlin 1) This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 20-6075395-T-TA is Benign according to our data. Variant chr20-6075395-T-TA is described in ClinVar as [Benign]. Clinvar id is 339178.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.994 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
FERMT1	NM_017671.5	c.*1777_*1778insT		3_prime_UTR_variant	15/15	ENST00000217289.9	NP_060141.3
FERMT1	XM_024451935.2	c.*1777_*1778insT		3_prime_UTR_variant	15/15		XP_024307703.1
FERMT1	XM_047440259.1	c.*1777_*1778insT		3_prime_UTR_variant	15/15		XP_047296215.1
FERMT1	XM_047440260.1	c.*1777_*1778insT		3_prime_UTR_variant	14/14		XP_047296216.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
FERMT1	ENST00000217289.9	c.*1777_*1778insT		3_prime_UTR_variant	15/15	1	NM_017671.5	ENSP00000217289	P1
FERMT1	ENST00000478194.1	n.2771_2772insT		non_coding_transcript_exon_variant	7/7	1

Frequencies

GnomAD3 genomes AF: 1.00 AC: 152220 AN: 152220 Hom.: 76110 Cov.: 0

Gnomad AFR AF: 1.00

Gnomad AMI AF: 1.00

Gnomad AMR AF: 1.00

Gnomad ASJ AF: 1.00

Gnomad EAS AF: 1.00

Gnomad SAS AF: 1.00

Gnomad FIN AF: 1.00

Gnomad MID AF: 1.00

Gnomad NFE AF: 1.00

Gnomad OTH AF: 1.00

GnomAD4 exome AF: 1.00 AC: 142 AN: 142 Hom.: 71 Cov.: 0 AF XY: 1.00 AC XY: 80 AN XY: 80

Gnomad4 EAS exome AF: 1.00

Gnomad4 NFE exome AF: 1.00

GnomAD4 genome AF: 1.00 AC: 152338 AN: 152338 Hom.: 76169 Cov.: 0 AF XY: 1.00 AC XY: 74496 AN XY: 74496

Gnomad4 AFR AF: 1.00

Gnomad4 AMR AF: 1.00

Gnomad4 ASJ AF: 1.00

Gnomad4 EAS AF: 1.00

Gnomad4 SAS AF: 1.00

Gnomad4 FIN AF: 1.00

Gnomad4 NFE AF: 1.00

Gnomad4 OTH AF: 1.00

Alfa AF: 1.00 Hom.: 8166

Bravo AF: 1.00

Asia WGS AF: 1.00 AC: 3478 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

Kindler syndrome Benign:1

Benign, criteria provided, single submitter

clinical testing

Illumina Laboratory Services, Illumina

Jun 14, 2016

- -

Computational scores

Source: dbNSFP v4.3

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

Publications

LitVar

Other links and lift over

dbSNP: rs397756084; hg19: chr20-6056042;