rs2001216

Variant names:

• chr15-90954900-T-A
• rs2001216
• NM_001017919.2:c.-172T>A

Your query was ambiguous. Multiple possible variants found:

• chr15-90954900-T-A
• chr15-90954900-T-C
• chr15-90954900-T-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001017919.2(RCCD1):​c.-172T>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 33)
• Consequence: RCCD1 NM_001017919.2 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.18
• Publications: 11 publications found

Genes affected

RCCD1 (HGNC:30457): (RCC1 domain containing 1) Predicted to be involved in chromatin organization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

RCCD1-AS1 (HGNC:54811): (RCCD1 and UNC45A antisense RNA 1)

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001017919.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RCCD1	NM_001017919.2	MANE Select	c.-172T>A		5_prime_UTR	Exon 1 of 8	NP_001017919.1	A6NED2
	RCCD1	NM_033544.3		c.-256T>A		5_prime_UTR	Exon 1 of 9	NP_291022.2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RCCD1	ENST00000394258.7	TSL:1 MANE Select	c.-172T>A		5_prime_UTR	Exon 1 of 8	ENSP00000377801.2	A6NED2
	RCCD1	ENST00000555737.5	TSL:1	n.17T>A		non_coding_transcript_exon	Exon 1 of 6
	RCCD1	ENST00000852981.1		c.-256T>A		5_prime_UTR	Exon 1 of 9	ENSP00000523040.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 33

Alfa AF: 0.00 Hom.: 625

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	0.13
DANN	Benign	0.43
PhyloP100		-2.2
PromoterAI		0.081	Neutral

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.040		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs2001216; hg19: chr15-91498130;