1-40302811-TGGAGGGAGGGAG-TGGAGGGAGGGAGGGAGGGAGGGAG

Position:

• chr1-40302811-TGGAGGGAGGGAG-TGGAGGGAGGGAGGGAGGGAGGGAG

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP6_Moderate

The NM_001852.4(COL9A2):​c.1604-14_1604-3dupCTCCCTCCCTCC variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely benign (★).

• Frequency: Genomes: not found (cov: 31)
• Consequence: COL9A2 NM_001852.4 splice_region, intron
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 2.54

Genes affected

COL9A2 (HGNC:2218): (collagen type IX alpha 2 chain) This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP6: Variant 1-40302811-T-TGGAGGGAGGGAG is Benign according to our data. Variant chr1-40302811-T-TGGAGGGAGGGAG is described in ClinVar as [Likely_benign]. Clinvar id is 1592479.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
COL9A2	NM_001852.4	c.1604-14_1604-3dupCTCCCTCCCTCC		splice_region_variant, intron_variant		ENST00000372748.8	NP_001843.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
COL9A2	ENST00000372748.8	c.1604-3_1604-2insCTCCCTCCCTCC		splice_region_variant, intron_variant		1	NM_001852.4	ENSP00000361834.3
COL9A2	ENST00000482722.5	n.1907-3_1907-2insCTCCCTCCCTCC		splice_region_variant, intron_variant		1
COL9A2	ENST00000427563.1	n.360-3_360-2insCTCCCTCCCTCC		splice_region_variant, intron_variant		3
COL9A2	ENST00000466267.1	n.569-3_569-2insCTCCCTCCCTCC		splice_region_variant, intron_variant		5

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 36

GnomAD4 genome Cov.: 31

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Likely benign, criteria provided, single submitter

clinical testing

Labcorp Genetics (formerly Invitae), Labcorp

Jun 28, 2022

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr1-40768483;