6-99341898-AATG-AATGATG

Variant names:

• chr6-99341898-A-AATG
• rs16635
• NM_032511.4:c.402+997_402+999dupCAT

Variant summary

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

The NM_032511.4(FAXC):​c.402+997_402+999dupCAT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: FAXC NM_032511.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.36

Genes affected

FAXC (HGNC:20742): (failed axon connections homolog, metaxin like GST domain containing) Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FAXC	NM_032511.4	c.402+997_402+999dupCAT		intron_variant	Intron 2 of 5	ENST00000389677.6	NP_115900.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FAXC	ENST00000389677.6	c.402+999_402+1000insCAT		intron_variant	Intron 2 of 5	1	NM_032511.4	ENSP00000374328.4
FAXC	ENST00000538471.1	c.-18+999_-18+1000insCAT		intron_variant	Intron 1 of 2	1		ENSP00000445267.1
FAXC	ENST00000480148.1	n.305+999_305+1000insCAT		intron_variant	Intron 3 of 4	3

Frequencies

GnomAD3 genomes Cov.: 0

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs16635; hg19: chr6-99789774;